Le informazioni sugli articoli di fonte ISI sono coperte da copyright

Per ulteriori informazioni selezionare i riferimenti di interesse.

1. Di Donato, S; Gellera, C; Mariotti, C
   The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
   NEUROLOGICAL SCIENCES
   
   S. Di Donato et al., "The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias", NEUROL SCI, 22(3), 2001, pp. 219-228
2. Scriver, CR
   Human genetics: Lessons from Quebec populations
   ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
   
   C.R. Scriver, "Human genetics: Lessons from Quebec populations", ANN REV GEN, 2, 2001, pp. 69-101
3. Jaeken, J; Matthijs, G
   Congenital disorders of glycosylation
   ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
   
   J. Jaeken e G. Matthijs, "Congenital disorders of glycosylation", ANN REV GEN, 2, 2001, pp. 129-151
4. Takanashi, M; Mochizuki, H; Yokomizo, K; Hattori, N; Mori, H; Yamamura, Y; Mizuno, Y
   Iron accumulation in the substantia nigra of autosomal recessive juvenile parkinsonism (ARJP)
   PARKINSONISM & RELATED DISORDERS
   
   M. Takanashi et al., "Iron accumulation in the substantia nigra of autosomal recessive juvenile parkinsonism (ARJP)", PARKINS R D, 7(4), 2001, pp. 311-314
5. Prasad, C; Johnson, JP; Bonnefont, JP; Dilling, LA; Innes, AM; Haworth, JC; Beischel, L; Thuillier, L; Prip-Buus, C; Singal, R; Thompson, JRG; Prasad, AN; Buist, N; Greenberg, CR
   Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program
   MOLECULAR GENETICS AND METABOLISM
   
   C. Prasad et al., "Hepatic carnitine palmitoyl transferase 1 (CPT1 A) deficiency in North American Hutterites (Canadian and American): Evidence for a founder effect andresults of a pilot study on a DNA-based newborn screening program", MOL GEN MET, 73(1), 2001, pp. 55-63
6. Hogema, BM; Akaboshi, S; Taylor, M; Salomons, GS; Jakobs, C; Schutgens, RB; Wilcken, B; Worthington, S; Maropoulos, G; Grompe, M; Gibson, KM
   Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses
   MOLECULAR GENETICS AND METABOLISM
   
   B.M. Hogema et al., "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses", MOL GEN MET, 72(3), 2001, pp. 218-222
7. Van den Veyver, IB; Norman, B; Tran, CQ; Bourjac, J; Slim, R
   The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3)is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies
   JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION
   
   I.B. Van den Veyver et al., "The human homologue (PEG3) of the mouse paternally expressed gene 3 (Peg3)is maternally imprinted but not mutated in women with familial recurrent hydatidiform molar pregnancies", J SOC GYN I, 8(5), 2001, pp. 305-313
8. Notorangelo, LD; Mella, P; Jones, A; Baisle, GD; Savoldi, G; Cranston, T; Vihinen, M; Schumacher, RF
   Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
   HUMAN MUTATION
   
   L.D. Notorangelo et al., "Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency", HUM MUTAT, 18(4), 2001, pp. 255-263
9. Campbell, C; Cucci, RA; Prasad, S; Green, GE; Edeal, JB; Galer, CE; Karniski, LP; Sheffield, VC; Smith, RJH
   Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations
   HUMAN MUTATION
   
   C. Campbell et al., "Pendred syndrome, DFNB4, and PDS/SCL26A4 identification of eight novel mutations and possible genotype-phenotype correlations", HUM MUTAT, 17(5), 2001, pp. 403-411
10. Beekmans, SJA; Wiebe, MJ
    Surgical treatment of aplasia cutis in the Adams-Oliver syndrome
    JOURNAL OF CRANIOFACIAL SURGERY
    
    S.J.A. Beekmans e M.J. Wiebe, "Surgical treatment of aplasia cutis in the Adams-Oliver syndrome", J CRANIOF S, 12(6), 2001, pp. 569-572
11. Balanovsky, OP; Buzhilova, AP; Balanovskaya, EV
    The Russian gene pool: Gene geography of surnames
    RUSSIAN JOURNAL OF GENETICS
    
    O.P. Balanovsky et al., "The Russian gene pool: Gene geography of surnames", RUSS J GEN, 37(7), 2001, pp. 807-822
12. Vanlieferinghen, P; Borderon, C; Francannet, C; Gembara, P; Dechelotte, P
    Johanson-Blizzard syndrome. A new case with autopsy findings
    GENETIC COUNSELING
    
    P. Vanlieferinghen et al., "Johanson-Blizzard syndrome. A new case with autopsy findings", GEN COUNSEL, 12(3), 2001, pp. 245-250
13. Cesko, I; Hajdu, J; Marton, T; Tarnai, L; Papp, Z
    Polysplenia and situs inversus in siblings - Case reports
    FETAL DIAGNOSIS AND THERAPY
    
    I. Cesko et al., "Polysplenia and situs inversus in siblings - Case reports", FETAL DIAGN, 16(1), 2001, pp. 1-3
14. Unay, B; Sarici, SU; Gul, D; Akin, R; Gokcay, E
    Adams-Oliver syndrome: further evidence for autosomal recessive inheritance
    CLINICAL DYSMORPHOLOGY
    
    B. Unay et al., "Adams-Oliver syndrome: further evidence for autosomal recessive inheritance", CLIN DYSMOR, 10(3), 2001, pp. 223-225
15. Lammer, EJ; Scholes, T; Abrams, L
    Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?
    CLINICAL DYSMORPHOLOGY
    
    E.J. Lammer et al., "Autosomal recessive tetralogy of Fallot, unusual facies, communicating hydrocephalus, and delayed language development: a new syndrome?", CLIN DYSMOR, 10(1), 2001, pp. 9-13
16. Teebi, AS; Druker, HA
    Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?
    CLINICAL DYSMORPHOLOGY
    
    A.S. Teebi e H.A. Druker, "Brachycephaly, cutis aplasia congenita, blue sclerae, hypertelorism, polydactyly, hypoplastic nipples, failure to thrive, and developmental delay: a distinct autosomal recessive syndrome?", CLIN DYSMOR, 10(1), 2001, pp. 69-70
17. Mohan, U; Misra, VP; Britto, J; Muntoni, F; King, RHM; Thomas, PK
    Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement
    NEUROMUSCULAR DISORDERS
    
    U. Mohan et al., "Inherited early onset severe axonal polyneuropathy with respiratory failure and autonomic involvement", NEUROMUSC D, 11(4), 2001, pp. 395-399
18. Ueyama, H; Kumamoto, T; Nagao, S; Masuda, T; Horinouchi, H; Fujimoto, S; Tsuda, T
    A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy
    NEUROMUSCULAR DISORDERS
    
    H. Ueyama et al., "A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy", NEUROMUSC D, 11(2), 2001, pp. 139-145
19. Barhoumi, C; Amouri, R; Ben Hamida, C; Ben Hamida, M; Machghoul, S; Gueddiche, M; Hentati, F
    Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3
    NEUROMUSCULAR DISORDERS
    
    C. Barhoumi et al., "Linkage of a new locus for autosomal recessive axonal form of Charcot-Marie-Tooth disease to chromosome 8q21.3", NEUROMUSC D, 11(1), 2001, pp. 27-34
20. Olby, NJ; Sharp, NJH; Anderson, LVB; Kunkel, LM; Bonnemann, CG
    Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers
    NEUROMUSCULAR DISORDERS
    
    N.J. Olby et al., "Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers", NEUROMUSC D, 11(1), 2001, pp. 41-49
21. Paladini, D; Tartaglione, A; Agangi, A; Foglia, S; Martinelli, P; Nappi, C
    Pena-Shokeir phenotype with variable onset in three consecutive pregnancies
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY
    
    D. Paladini et al., "Pena-Shokeir phenotype with variable onset in three consecutive pregnancies", ULTRASOUN O, 17(2), 2001, pp. 163-165
22. Tanaka, K; Suzuki, T; Chiba, T; Shimura, H; Hattori, N; Mizuno, Y
    Parkin is linked to the ubiquitin pathway
    JOURNAL OF MOLECULAR MEDICINE-JMM
    
    K. Tanaka et al., "Parkin is linked to the ubiquitin pathway", J MOL MED-J, 79(9), 2001, pp. 482-494
23. Jones, HC; Depelteau, JS; Carter, BJ; Lopman, BA; Morel, L
    Genome-wide linkage analysis of inherited hydrocephalus in the H-Tx rat
    MAMMALIAN GENOME
    
    H.C. Jones et al., "Genome-wide linkage analysis of inherited hydrocephalus in the H-Tx rat", MAMM GENOME, 12(1), 2001, pp. 22-26
24. Fonck, C; Chauveau, D; Gagnadoux, MF; Pirson, Y; Grunfeld, JP
    Autosomal recessive polycystic kidney disease in adulthood
    NEPHROLOGY DIALYSIS TRANSPLANTATION
    
    C. Fonck et al., "Autosomal recessive polycystic kidney disease in adulthood", NEPH DIAL T, 16(8), 2001, pp. 1648-1652
25. Bentivoglio, AR; Cortelli, P; Valente, EM; Ialongo, T; Ferraris, A; Elia, A; Montagna, P; Albanese, A
    Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
    MOVEMENT DISORDERS
    
    A.R. Bentivoglio et al., "Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families", MOVEMENT D, 16(6), 2001, pp. 999-1006
26. Iacobini, M; Migliaccio, S; Roggini, M; Taranta, A; Werner, B; Panero, A; Teti, A
    Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy
    JOURNAL OF BONE AND MINERAL RESEARCH
    
    M. Iacobini et al., "Apparent cure of a newborn with malignant osteopetrosis using prednisone therapy", J BONE MIN, 16(12), 2001, pp. 2356-2360
27. Carlsson, G; Fasth, A
    Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
    ACTA PAEDIATRICA
    
    G. Carlsson e A. Fasth, "Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review", ACT PAEDIAT, 90(7), 2001, pp. 757-764
28. Fatinni, Y; Asindi, A; Al Falki, Y; Al Harthi, A; Al Fifi, S; Al-Daama, S
    Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family
    ACTA PAEDIATRICA
    
    Y. Fatinni et al., "Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family", ACT PAEDIAT, 90(2), 2001, pp. 151-153
29. Bai, UM; Seidman, MD
    A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss
    HEARING RESEARCH
    
    U.M. Bai e M.D. Seidman, "A specific mitochondrial DNA deletion (mtDNA(4977)) is identified in a pedigree of a family with hearing loss", HEARING RES, 154(1-2), 2001, pp. 73-80
30. Majeed, HA; Al-Tarawna, M; El-Shanti, H; Kamel, B; Al-Khalaileh, F
    The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review
    EUROPEAN JOURNAL OF PEDIATRICS
    
    H.A. Majeed et al., "The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review", EUR J PED, 160(12), 2001, pp. 705-710
31. Benstead, TJ; Grant, IA
    Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies
    CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
    
    T.J. Benstead e I.A. Grant, "Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies", CAN J NEUR, 28(3), 2001, pp. 199-214
32. Di Luca, BJ; Mitchell, A
    Anaesthesia in a child with autosomal recessive omodysplasia
    ANAESTHESIA AND INTENSIVE CARE
    
    B.J. Di Luca e A. Mitchell, "Anaesthesia in a child with autosomal recessive omodysplasia", ANAESTH I C, 29(1), 2001, pp. 71-73
33. Vazquez, N; Lehrnbecher, T; Chen, R; Christensen, BL; Gallin, JI; Malech, H; Holland, S; Zhu, SX; Chanock, SJ
    Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes
    EXPERIMENTAL HEMATOLOGY
    
    N. Vazquez et al., "Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes", EXP HEMATOL, 29(2), 2001, pp. 234-243
34. Shoffner, JM
    An introduction: Oxidative phosphorylation diseases
    SEMINARS IN NEUROLOGY
    
    J.M. Shoffner, "An introduction: Oxidative phosphorylation diseases", SEM NEUROL, 21(3), 2001, pp. 237-250
35. Kapelushnik, J; Shalev, C; Yaniv, I; Aker, M; Carmi, R; Cohen, Z; Mozer, A; Schulman, C; Stein, G; Or, R
    Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis
    BONE MARROW TRANSPLANTATION
    
    J. Kapelushnik et al., "Osteopetrosis: a single centre experience of stem cell transplantation andprenatal diagnosis", BONE MAR TR, 27(2), 2001, pp. 129-132
36. Shalev, H; Mishori-Dery, A; Kapelushnik, J; Moser, A; Sheffield, VC; McClain, A; Carmi, R
    Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis
    PRENATAL DIAGNOSIS
    
    H. Shalev et al., "Prenatal diagnosis of malignant osteopetrosis in Bedouin families by linkage analysis", PRENAT DIAG, 21(3), 2001, pp. 183-186
37. Antoniadi, T; Pampanos, A; Petersen, MB
    Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation
    PRENATAL DIAGNOSIS
    
    T. Antoniadi et al., "Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation", PRENAT DIAG, 21(1), 2001, pp. 10-13
38. Huynh, DP; Dy, M; Nguyen, D; Kiehl, TR; Pulst, SM
    Differential expression and tissue distribution of parkin isoforms during mouse development
    DEVELOPMENTAL BRAIN RESEARCH
    
    D.P. Huynh et al., "Differential expression and tissue distribution of parkin isoforms during mouse development", DEV BRAIN R, 130(2), 2001, pp. 173-181
39. Haddad, R; Uwaydat, S; Dakroub, R; Traboulsi, EI
    Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    R. Haddad et al., "Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance", AM J MED G, 99(3), 2001, pp. 185-189
40. Zenteno, JC; Jimenez, AL; Canto, P; Valdez, H; Mendez, JP; Kofman-Alfaro, S
    Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    J.C. Zenteno et al., "Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue", AM J MED G, 99(3), 2001, pp. 244-247
41. Witters, I; Devriendt, K; Moerman, P; Caudron, J; Van Hole, C; Fryns, JP
    Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    I. Witters et al., "Bilateral tibial agenesis with ectrodactyly (OMIM 119100): Further evidence for autosomal recessive inheritance", AM J MED G, 104(3), 2001, pp. 209-213
42. van Haelst, MM; Hoogeboom, J; Galjaard, RJH; Kleijer, WJ; den Hollander, NS; de Krijger, RR; Hennekam, RCM; Niermeijer, MF
    Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M.M. van Haelst et al., "Lymphangiectasia with persistent mullerian derivatives: Confirmation of autosomal recessive Urioste syndrome", AM J MED G, 104(1), 2001, pp. 65-68
43. Orrico, A; Galli, L; Zappella, M; Lam, CW; Bonifacio, S; Torricelli, F; Hayek, G
    Possible case of Pitt-Hopkins syndrome in sibs
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    A. Orrico et al., "Possible case of Pitt-Hopkins syndrome in sibs", AM J MED G, 103(2), 2001, pp. 157-159
44. Avegno, J; Tilton, AH; Lacassie, Y
    Provisionally unique autosomal recessive syndrome due to significant consanguinity
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    J. Avegno et al., "Provisionally unique autosomal recessive syndrome due to significant consanguinity", AM J MED G, 102(4), 2001, pp. 324-326
45. Leonardi, ML; Pai, GS; Wilkes, B; Lebel, RR
    Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M.L. Leonardi et al., "Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review", AM J MED G, 102(3), 2001, pp. 237-242
46. Chamyan, G; Debich-Spicer, D; Opitz, JM; Gilbert-Barness, E
    Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    G. Chamyan et al., "Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18", AM J MED G, 102(3), 2001, pp. 293-296
47. Kondoh, T; Yamamoto, T; Kono, Y; Matsumoto, T; Sugawara, H; Matsumoto, N; Moriuchi, H
    Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomalrecessive MCA/MR syndrome?
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    T. Kondoh et al., "Condition of microcephaly, growth retardation, joint contractures, atopic dermatitis, and mental retardation in two Japanese sisters: A new autosomalrecessive MCA/MR syndrome?", AM J MED G, 102(1), 2001, pp. 63-67
48. Aylsworth, AS
    Clinical aspects of defects in the determination of laterality
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    A.S. Aylsworth, "Clinical aspects of defects in the determination of laterality", AM J MED G, 101(4), 2001, pp. 345-355
49. Silengo, M; Del Monaco, A; Linari, A; Lala, R
    Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M. Silengo et al., "Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies", AM J MED G, 101(3), 2001, pp. 275-278
50. Drouin-Garraud, V; Belgrand, M; Grunewald, S; Seta, N; Dacher, JN; Henocq, A; Matthijs, G; Cormier-Daire, V; Frebourg, T; Saugier-Veber, P
    Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    V. Drouin-Garraud et al., "Neurological presentation of a congenital disorder of glycosylation CDG-Ia: Implications for diagnosis and genetic counseling", AM J MED G, 101(1), 2001, pp. 46-49
51. Dell, KM; Nemo, R; Sweeney, WE; Levin, JI; Frost, P; Avner, ED
    A novel inhibitor of tumor necrosis factor-alpha converting enzyme ameliorates polycystic kidney disease
    KIDNEY INTERNATIONAL
    
    K.M. Dell et al., "A novel inhibitor of tumor necrosis factor-alpha converting enzyme ameliorates polycystic kidney disease", KIDNEY INT, 60(4), 2001, pp. 1240-1248
52. Lynn, EG; Siow, YL; Frohlich, J; Cheung, GTY; O, K
    Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B
    KIDNEY INTERNATIONAL
    
    E.G. Lynn et al., "Lipoprotein-X stimulates monocyte chemoattractant protein-1 expression in mesangial cells via nuclear factor-kappa B", KIDNEY INT, 60(2), 2001, pp. 520-532
53. Milliner, DS; Wilson, DM; Smith, LH
    Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II
    KIDNEY INTERNATIONAL
    
    D.S. Milliner et al., "Phenotypic expression of primary hyperoxaluria: Comparative features of types I and II", KIDNEY INT, 59(1), 2001, pp. 31-36
54. Batlle, D; Ghanekar, H; Jain, S; Mitra, A
    Hereditary distal renal tubular acidosis: New understandings
    ANNUAL REVIEW OF MEDICINE
    
    D. Batlle et al., "Hereditary distal renal tubular acidosis: New understandings", ANN R MED, 52, 2001, pp. 471-484
55. Rothdach, AJ; Dietl, T; Kumpfel, T; Gottschalk, M; Schumann, EM; Trenkwalder, C
    Familiar myoclonus-renal failure syndrome
    NERVENARZT
    
    A.J. Rothdach et al., "Familiar myoclonus-renal failure syndrome", NERVENARZT, 72(8), 2001, pp. 636-640
56. Sermet-Gaudelus, I; Garabedian, M; Dechaux, M; Lenoir, G; Rey, J; Tieder, M
    Hereditary hypophosphatemic rickets with hypercalciuria: Report of a new kindred
    NEPHRON
    
    I. Sermet-Gaudelus et al., "Hereditary hypophosphatemic rickets with hypercalciuria: Report of a new kindred", NEPHRON, 88(1), 2001, pp. 83-86
57. Kubo, S; Kitami, T; Noda, S; Shimura, H; Uchiyama, Y; Asakawa, S; Minoshima, S; Shimizu, N; Mizuno, Y; Hattori, N
    Parkin is associated with cellular vesicles
    JOURNAL OF NEUROCHEMISTRY
    
    S. Kubo et al., "Parkin is associated with cellular vesicles", J NEUROCHEM, 78(1), 2001, pp. 42-54
58. Wang, M; Suzuki, T; Kitada, T; Asakawa, S; Minoshima, S; Shimizu, N; Tanaka, K; Mizuno, Y; Hattori, N
    Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain
    JOURNAL OF NEUROCHEMISTRY
    
    M. Wang et al., "Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain", J NEUROCHEM, 77(6), 2001, pp. 1561-1568
59. Van Laer, L; Coucke, P; Mueller, RF; Caethoven, G; Flothmann, K; Prasad, SD; Chamberlin, GP; Houseman, M; Taylor, GR; Van de Heyning, CM; Fransen, E; Rowland, J; Cucci, RA; Smith, RJH; Van Camp, G
    A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment
    JOURNAL OF MEDICAL GENETICS
    
    L. Van Laer et al., "A common founder for the 35deIG GJB2 gene mutation in connexin 26 hearing impairment", J MED GENET, 38(8), 2001, pp. 515-518
60. Amiel, J; Lyonnet, S
    Hirschsprung disease, associated syndromes, and genetics: a review
    JOURNAL OF MEDICAL GENETICS
    
    J. Amiel e S. Lyonnet, "Hirschsprung disease, associated syndromes, and genetics: a review", J MED GENET, 38(11), 2001, pp. 729-739
61. Koivisto, PA; Mustonen, A
    Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance
    CHEST
    
    P.A. Koivisto e A. Mustonen, "Primary spontaneous pneumothorax in two siblings suggests autosomal recessive inheritance", CHEST, 119(5), 2001, pp. 1610-1612
62. Bittles, AH
    Consanguinity and its relevance to clinical genetics
    CLINICAL GENETICS
    
    A.H. Bittles, "Consanguinity and its relevance to clinical genetics", CLIN GENET, 60(2), 2001, pp. 89-98
63. Schmidt, H; Rudolph, G; Hergersberg, M; Schneider, K; Moradi, S; Meitinger, T
    Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome
    CLINICAL GENETICS
    
    H. Schmidt et al., "Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred - a possible new syndrome", CLIN GENET, 59(2), 2001, pp. 99-105
64. Helfrich, MH; Gerritsen, EJA
    Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis
    BRITISH JOURNAL OF HAEMATOLOGY
    
    M.H. Helfrich e E.J.A. Gerritsen, "Formation of non-resorbing osteoclasts from peripheral blood mononuclear cells of patients with malignant juvenile osteopetrosis", BR J HAEM, 112(1), 2001, pp. 64-68
65. Virolainen, E; Niemi, KM; Ganem, A; Kere, J; Vahlquist, A; Saarialho-Kere, U
    Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma
    BRITISH JOURNAL OF DERMATOLOGY
    
    E. Virolainen et al., "Ultrastructural features resembling those of harlequin ichthyosis in patients with severe congenital ichthyosiform erythroderma", BR J DERM, 145(3), 2001, pp. 480-483
66. Cserhalmi-Friedman, PB; Milstone, LM; Christiano, AM
    Diagnosis of autosomal recessive lamellar ichthyosis with mutations in theTGM1 gene
    BRITISH JOURNAL OF DERMATOLOGY
    
    P.B. Cserhalmi-Friedman et al., "Diagnosis of autosomal recessive lamellar ichthyosis with mutations in theTGM1 gene", BR J DERM, 144(4), 2001, pp. 726-730
67. Nordal, EJ; Mecklenbeck, S; Hausser, I; Skranes, J; Bruckner-Tuderman, L; Gedde-Dahl, T
    Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets
    BRITISH JOURNAL OF DERMATOLOGY
    
    E.J. Nordal et al., "Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets", BR J DERM, 144(1), 2001, pp. 151-157
68. Malmer, B; Iselius, L; Holmberg, E; Collins, A; Henriksson, R; Gronberg, H
    Genetic epidemiology of glioma
    BRITISH JOURNAL OF CANCER
    
    B. Malmer et al., "Genetic epidemiology of glioma", BR J CANC, 84(3), 2001, pp. 429-434
69. McMahon, C; Will, A; Hu, PY; Shah, GN; Sly, WS; Smith, OP
    Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome
    BLOOD
    
    C. McMahon et al., "Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome", BLOOD, 97(7), 2001, pp. 1947-1950
70. Klein, BEK; Cruickshanks, KJ; Nondahl, DM; Klein, R; Dalton, DS
    Cataract and hearing loss in a population-based study: The Beaver Dam studies
    AMERICAN JOURNAL OF OPHTHALMOLOGY
    
    B.E.K. Klein et al., "Cataract and hearing loss in a population-based study: The Beaver Dam studies", AM J OPHTH, 132(4), 2001, pp. 537-543
71. Scimeca, JC; Franchi, A; Trojani, C; Parrinello, H; Grosgeorge, J; Robert, C; Jaillon, O; Poirier, C; Gaudray, P; Carle, GF
    The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants
    BONE
    
    J.C. Scimeca et al., "The gene encoding the mouse homologue of the human osteoclast-specific 116-kDa V-ATPase subunit bears a deletion in osteosclerotic (oc/oc) mutants", BONE, 26(3), 2000, pp. 207-213
72. Cohen, DP
    Molecular evaluation of the gonadotropin-releasing hormone receptor
    SEMINARS IN REPRODUCTIVE MEDICINE
    
    D.P. Cohen, "Molecular evaluation of the gonadotropin-releasing hormone receptor", SEMIN REP M, 18(1), 2000, pp. 11-16
73. Yeowell, HN; Walker, LC
    Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiencyand the clinical phenotype of Ehlers-Danlos syndrome type VI
    MOLECULAR GENETICS AND METABOLISM
    
    H.N. Yeowell e L.C. Walker, "Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiencyand the clinical phenotype of Ehlers-Danlos syndrome type VI", MOL GEN MET, 71(1-2), 2000, pp. 212-224
74. Chanock, SJ; Roesler, J; Zhan, SX; Hopkins, P; Lee, P; Barrett, DT; Christensen, BL; Curnutte, JT; Gorlach, A
    Genomic structure of the human p47-phox (NCF1) Gene
    BLOOD CELLS MOLECULES AND DISEASES
    
    S.J. Chanock et al., "Genomic structure of the human p47-phox (NCF1) Gene", BL CELL M D, 26(1), 2000, pp. 37-46
75. Genschel, J; Schmidt, HHJ
    Mutations in the LMNA gene encoding lamin A/C
    HUMAN MUTATION
    
    J. Genschel e H.H.J. Schmidt, "Mutations in the LMNA gene encoding lamin A/C", HUM MUTAT, 16(6), 2000, pp. 451-459
76. Prasad, S; Cucci, RA; Green, GE; Smith, RJH
    Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)
    HUMAN MUTATION
    
    S. Prasad et al., "Genetic testing for hereditary hearing loss: Connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA)", HUM MUTAT, 16(6), 2000, pp. 502-508
77. Kornak, U; Schulz, A; Friedrich, W; Uhlhaas, S; Kremens, B; Voit, T; Hasan, C; Bode, U; Jentsch, TJ; Kubisch, C
    Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis
    HUMAN MOLECULAR GENETICS
    
    U. Kornak et al., "Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis", HUM MOL GEN, 9(13), 2000, pp. 2059-2063
78. Rajab, A; Riaz, A; Paul, G; Al-Khusaibi, S; Chalmers, R; Patton, MA
    Further delineation of the DOOR syndrome
    CLINICAL DYSMORPHOLOGY
    
    A. Rajab et al., "Further delineation of the DOOR syndrome", CLIN DYSMOR, 9(4), 2000, pp. 247-251
79. Guion-Almeida, ML; Richieri-Costa, A
    Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome
    CLINICAL DYSMORPHOLOGY
    
    M.L. Guion-Almeida e A. Richieri-Costa, "Amniotic band sequence versus the autosomal recessive microcephaly, facialclefting, and preaxial polydactyly syndrome", CLIN DYSMOR, 9(4), 2000, pp. 297-299
80. Megarbane, A; Melki, I; Souraty, N; Gerbaka, J; El Ghouzzi, V; Bonaventure, J; Mornand, A; Loiselet, J
    Overlap between Baller-Gerold and Rothmund-Thomson syndrome
    CLINICAL DYSMORPHOLOGY
    
    A. Megarbane et al., "Overlap between Baller-Gerold and Rothmund-Thomson syndrome", CLIN DYSMOR, 9(4), 2000, pp. 303-305
81. Acosta, AX; Peres, LC; Chimelli, LC; Pina-Neto, JM
    Raine dysplasia: a Brazilian case with a mild radiological involvement
    CLINICAL DYSMORPHOLOGY
    
    A.X. Acosta et al., "Raine dysplasia: a Brazilian case with a mild radiological involvement", CLIN DYSMOR, 9(2), 2000, pp. 99-101
82. Devriendt, K; Keymolen, K; Roelen, L; Van Goethem, G; Meireleire, J; Fryns, JP
    Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism
    CLINICAL DYSMORPHOLOGY
    
    K. Devriendt et al., "Severe short stature, hyperphalangy of the index fingers, mental retardation and facial dysmorphism", CLIN DYSMOR, 9(2), 2000, pp. 111-114
83. Amor, DJ; Woods, CG
    Pseudotrisomy 13 syndrome in siblings
    CLINICAL DYSMORPHOLOGY
    
    D.J. Amor e C.G. Woods, "Pseudotrisomy 13 syndrome in siblings", CLIN DYSMOR, 9(2), 2000, pp. 115-118
84. Abdel-Salam, G; Czeizel, AE
    The second unrelated case with isolated microcephaly and normal intelligence (Microcephalia vera)
    CLINICAL DYSMORPHOLOGY
    
    G. Abdel-Salam e A.E. Czeizel, "The second unrelated case with isolated microcephaly and normal intelligence (Microcephalia vera)", CLIN DYSMOR, 9(2), 2000, pp. 151-152
85. Driss, A; Amouri, R; Ben Hamida, C; Souilem, S; Gouider-Khouja, N; Ben Hamida, M; Hentati, F
    A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
    NEUROMUSCULAR DISORDERS
    
    A. Driss et al., "A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3", NEUROMUSC D, 10(4-5), 2000, pp. 240-246
86. Salih, MAM; Maisonobe, T; Kabiraj, M; Al Rayess, M; Al-Turaiki, MHS; Akbar, M; Tahan, A; Urtizberea, JA; Grid, D; Hamadouche, T; Guilbot, A; Brice, A; Leguern, E
    Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity
    NEUROMUSCULAR DISORDERS
    
    M.A.M. Salih et al., "Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity", NEUROMUSC D, 10(1), 2000, pp. 10-15
87. D'Agata, V; Grimaldi, M; Pascale, A; Cavallaro, S
    Regional and cellular expression of the parkin gene in the rat cerebral cortex
    EUROPEAN JOURNAL OF NEUROSCIENCE
    
    V. D'Agata et al., "Regional and cellular expression of the parkin gene in the rat cerebral cortex", EUR J NEURO, 12(10), 2000, pp. 3583-3588
88. Loo, DMWMT; Levtchenko, E; Furlan, M; Roosendaal, GPM; van den Heuvel, LPWJ
    Autosomal recessive inheritance of von Willebrand factor-cleaving proteasedeficiency
    PEDIATRIC NEPHROLOGY
    
    D.M.W.M.T. Loo et al., "Autosomal recessive inheritance of von Willebrand factor-cleaving proteasedeficiency", PED NEPHROL, 14(8-9), 2000, pp. 762-765
89. Tsimaratos, M; Cloarec, S; Roquelaure, B; Retornaz, K; Picon, G; Chabrol, B; Guys, JM; Sarles, J; Nivet, H
    Chronic renal failure and portal hypertension - is portosystemic shunt indicated?
    PEDIATRIC NEPHROLOGY
    
    M. Tsimaratos et al., "Chronic renal failure and portal hypertension - is portosystemic shunt indicated?", PED NEPHROL, 14(8-9), 2000, pp. 856-858
90. Alvarez, V; Malaga, S; Navarro, M; Espinosa, L; Hidalgo, E; Badia, J; Alvarez, R; Coto, E
    Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease
    PEDIATRIC NEPHROLOGY
    
    V. Alvarez et al., "Analysis of chromosome 6p in Spanish families with recessive polycystic kidney disease", PED NEPHROL, 14(3), 2000, pp. 205-207
91. Gagnadoux, MF; Attie, T; Amiel, J; Gigarel, N; Bonnefont, JP; Munnich, A; Gubler, MC; Antignac, C
    Prenatal diagnosis in autosomal recessive polycystic kidney disease
    ARCHIVES DE PEDIATRIE
    
    M.F. Gagnadoux et al., "Prenatal diagnosis in autosomal recessive polycystic kidney disease", ARCH PED, 7(9), 2000, pp. 942-947
92. Jouvencel, P; Brun, M; Le Manh, C; Micheau, M; Sarlangue, J
    Radiological quiz of the month
    ARCHIVES DE PEDIATRIE
    
    P. Jouvencel et al., "Radiological quiz of the month", ARCH PED, 7(4), 2000, pp. 402-404
93. Huq, AHMM; Nigro, MA
    XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?
    PEDIATRIC NEUROLOGY
    
    A.H.M.M. Huq e M.A. Nigro, "XY sex reversal and a nonprogressive neurologic disorder: A new syndrome?", PED NEUROL, 23(4), 2000, pp. 357-360
94. Hayashi, S; Wakabayashi, K; Ishikawa, A; Nagai, H; Saito, M; Maruyama, M; Takahashi, T; Ozawa, T; Tsuji, S; Takahashi, H
    An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
    MOVEMENT DISORDERS
    
    S. Hayashi et al., "An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene", MOVEMENT D, 15(5), 2000, pp. 884-888
95. Flanagan, AM; Sarma, U; Steward, CG; Vellodi, A; Horton, MA
    Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis
    JOURNAL OF BONE AND MINERAL RESEARCH
    
    A.M. Flanagan et al., "Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis", J BONE MIN, 15(2), 2000, pp. 352-360
96. Kocyigit, H; Arkun, R; Ozkinay, F; Cogulu, O; Hizli, N; Memis, A
    Spondyloepiphyseal dysplasia tarda with progressive arthropathy
    CLINICAL RHEUMATOLOGY
    
    H. Kocyigit et al., "Spondyloepiphyseal dysplasia tarda with progressive arthropathy", CLIN RHEUMA, 19(3), 2000, pp. 238-241
97. Andersen, C; Ramsay, JA; Nogee, LM; Shah, J; Wert, SE; Paes, B; Nowaczyk, MJM
    Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency
    AMERICAN JOURNAL OF PERINATOLOGY
    
    C. Andersen et al., "Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency", AM J PERIN, 17(4), 2000, pp. 219-224
98. Yamamura, Y; Hattori, N; Matsumine, H; Kuzuhara, S; Mizuno, Y
    Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification
    BRAIN & DEVELOPMENT
    
    Y. Yamamura et al., "Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification", BRAIN DEVEL, 2000, pp. S87-S91
99. Saito, M; Maruyama, M; Ikeuchi, K; Kondo, H; Ishikawa, A; Yuasa, T; Tsuji, S
    Autosomal recessive juvenile parkinsonism
    BRAIN & DEVELOPMENT
    
    M. Saito et al., "Autosomal recessive juvenile parkinsonism", BRAIN DEVEL, 2000, pp. S115-S117
100. Du, FL; Acland, GM; Ray, J
     Cloning and expression of type II collagen mRNA: evaluation as a candidatefor canine oculo-skeletal dysplasia
     GENE
     
     F.L. Du et al., "Cloning and expression of type II collagen mRNA: evaluation as a candidatefor canine oculo-skeletal dysplasia", GENE, 255(2), 2000, pp. 307-316