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    1. Sidorov, RA; Ugnivenko, EG; Khovanova, EM; Belitsky, GA
      Induction of tumor clones in D-melanogaster wts/+ heterozygotes with chemical carcinogens

      MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
    2. Strizheva, GD; Carsillo, T; Kruger, WD; Sullivan, EJ; Ryu, JH; Henske, EP
      The spectrum of mutations in TSC1 and TSC2 in women with tuberous sclerosis and lymphangiomyomatosis

      AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
    3. Gottlieb, B; Beitel, LE; Trifiro, MA
      Variable expressivity and mutation databases: The androgen receptor gene mutations database

      HUMAN MUTATION
    4. Giannakudis, J; Ropke, A; Kujat, A; Krajewska-Walasek, M; Hughes, H; Fryns, JP; Bankier, A; Amor, D; Schlicker, M; Hansmann, I
      Parental mosaicism of JAG1 mutations in families with Alagille syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    5. Lopez-Correa, C; Dorschner, M; Brems, H; Lazaro, C; Clementi, M; Upadhyaya, M; Dooijes, D; Moog, U; Kehrer-Sawatzki, H; Rutkowski, JL; Fryns, JP; Marynen, P; Stephens, K; Legius, E
      Recombination hotspot in NF1 microdeletion patients

      HUMAN MOLECULAR GENETICS
    6. Sommer, SS; Scaringe, WA; Hill, KA
      Human germline mutation in the factor IX gene

      MUTATION RESEARCH-DNA REPAIR
    7. Fang, LJ; Chalhoub, N; Li, WT; Feingold, J; Ortenberg, J; Lemieux, B; Thirion, JP
      Genotype analysis of the NF1 gene in the French Canadians from the Quebec population

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. Cohen, MM
      Asymmetry: Molecular, biologic, embryopathic, and clinical perspectives

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Ruggieri, M
      Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): No longer neurofibromatosis type 5 (NF5)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    10. Ruggieri, M; Huson, SM
      The clinical and diagnostic implications of mosaicism in the neurofibromatoses

      NEUROLOGY
    11. Hashida, H; Goto, J; Suzuki, T; Jeong, SY; Masuda, N; Ooie, T; Tachiiri, Y; Tsuchiya, H; Kanazawa, I
      Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA)

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    12. Paller, AS
      Expanding our concepts of mosaic disorders of skin

      ARCHIVES OF DERMATOLOGY
    13. Meola, G
      Myotonic dystrophies

      CURRENT OPINION IN NEUROLOGY
    14. Filocamo, M; Bonuccelli, G; Mazzotti, R; Corsolini, F; Stroppiano, M; Regis, S; Gatti, R
      Somatic mosaicism in a patient with Gaucher disease type 2: Implication for genetic counseling and therapeutic decision-making

      BLOOD CELLS MOLECULES AND DISEASES
    15. Tinschert, S; Naumann, I; Stegmann, E; Buske, A; Kaufmann, D; Thiel, G; Jenne, DE
      Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

      EUROPEAN JOURNAL OF HUMAN GENETICS
    16. Ligon, AH; Kashork, CD; Richards, CS; Shaffer, LG
      Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach

      EUROPEAN JOURNAL OF HUMAN GENETICS
    17. Ars, E; Serra, E; Garcia, J; Kruyer, H; Gaona, A; Lazaro, C; Estivill, X
      Mutations affecting mRNA splicing are the most common molecular defects inpatients with neurofibromatosis type 1

      HUMAN MOLECULAR GENETICS
    18. Dorschner, MO; Sybert, VP; Weaver, M; Pletcher, BA; Stephens, K
      NF1 microdeletion breakpoints are clustered at flanking repetitive sequences

      HUMAN MOLECULAR GENETICS
    19. Frints, SGM; De Smet, L; Fabry, G; Fryns, JP
      A young female with asymmetric manifestations of Larsen syndrome: another example of unilateral somatic cell-line mosaicism

      CLINICAL DYSMORPHOLOGY
    20. Kahlem, P; Djian, P
      The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum

      NEUROSCIENCE LETTERS
    21. Levine, RM
      Ocular plagiocephaly

      OPHTHALMOLOGY
    22. Ginsburg, C; Fokstuen, S; Schinzel, B
      The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age

      AMERICAN JOURNAL OF MEDICAL GENETICS
    23. Gilbert-Barness, E; Cohen, MM; Opitz, JM
      Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. De Becker, I; Gajda, DJ; Gilbert-Barness, E; Cohen, MM
      Ocular manifestations in Proteus syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Itoh, N; Becroft, DMO; Reeve, AE; Morison, IM
      Proportion of cells with paternal 11p15 uniparental disomy correlates withorgan enlargement in Wiedemann-Beckwith syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    26. Kalousek, DK
      Pathogenesis of chromosomal mosaicism and its effect on early human development

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Carsillo, T; Astrinidis, A; Henske, EP
      Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    28. Ruggieri, M; Polizzi, A
      Segmental neurofibromatosis

      JOURNAL OF NEUROSURGERY
    29. Schwarz, J; Belzberg, AJ
      Malignant peripheral nerve sheath tumors in the setting of segmental neurofibromatosis - Case report

      JOURNAL OF NEUROSURGERY
    30. Slavotinek, AM; Vacha, SJ; Peters, KF; Biesecker, LG
      Sudden death caused by pulmonary thromboembolism in Proteus syndrome

      CLINICAL GENETICS
    31. Macmillan, ML; Auerbach, AD; Davies, SM; Defor, TE; Gillio, A; Giller, R; Harris, R; Cairo, M; Dusenbery, I; Hirsch, E; Ramsay, NKC; Weisdorf, DJ; Wagner, JE
      Haematopoietic cell transplantation in patients with Fanconi anaemia usingalternate donors: Results of a total body irradiation dose escalation trial

      BRITISH JOURNAL OF HAEMATOLOGY
    32. Bidichandani, SI; Garcia, CA; Patel, PI; Dimachkie, MM
      Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions

      ARCHIVES OF NEUROLOGY
    33. Das, S; Lese, CM; Song, M; Jensen, JL; Wells, LA; Barnoski, BL; Roseberry, JA; Camacho, JM; Ledbetter, DH; Schnur, RE
      Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities

      AMERICAN JOURNAL OF HUMAN GENETICS
    34. Fahsold, R; Hoffmeyer, S; Mischung, C; Gille, C; Ehlers, C; Kucukceylan, N; Abdel-Nour, M; Gewies, A; Peters, H; Kaufmann, D; Buske, A; Tinschert, S; Nurnberg, P
      Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain

      AMERICAN JOURNAL OF HUMAN GENETICS
    35. Riva, P; Corrado, L; Natacci, F; Castorina, P; Wu, BL; Schneider, GH; Clementi, M; Tenconi, R; Korf, BR; Larizza, L
      NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes

      AMERICAN JOURNAL OF HUMAN GENETICS
    36. Rasmussen, SA; Friedman, JM
      NF1 gene and neurofibromatosis 1

      AMERICAN JOURNAL OF EPIDEMIOLOGY
    37. Yang, XP; Inazu, A; Yagi, K; Kajinami, K; Koizumi, J; Mabuchi, H
      Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    38. Happle, R; Konig, A
      Type 2 segmental manifestation of multiple glomus tumors: A review and reclassification of 5 case reports

      DERMATOLOGY
    39. Brock, GJR; Anderson, NH; Monckton, DG
      Cis-acting modifiers of expanded CAG CTG triplet repeat expandability: associations with flanking GC content and proximity to CpG islands

      HUMAN MOLECULAR GENETICS
    40. Kono, Y; Agawa, Y; Watanabe, Y; Ohama, E; Nanba, E; Nakashima, K
      Analysis of the CAG repeat number in a patient with Huntington's disease

      INTERNAL MEDICINE
    41. Cohen, MM; Howell, RE
      Etiology of fibrous dysplasia and McCune-Albright syndrome

      INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
    42. Ketterling, RP; Vielhaber, E; Li, XM; Drost, J; Schaid, DJ; Kasper, CK; Phillips, JA; Koerper, MA; Kim, H; Sexauer, C; Gruppo, R; Ambriz, R; Paredes, R; Sommer, SS
      Germline origins in the human F9 gene: frequent G : C--> A : T mosaicism and increased mutations with advanced maternal age

      HUMAN GENETICS
    43. Holterhus, PM; Sinnecker, GHG; Wollmann, HA; Struve, D; Homburg, N; Kruse, K; Hiort, O
      Expression of two functionally different androgen receptors in a patient with androgen insensitivity

      EUROPEAN JOURNAL OF PEDIATRICS
    44. Matsuura, T; Sasaki, H; Yabe, I; Hamada, K; Hamada, T; Shitara, M; Tashiro, K
      Mosaicism of unstable CAG repeats in the brain of spinocerebellar ataxia type 2

      JOURNAL OF NEUROLOGY
    45. Ruggieri, M
      The different forms of neurofibromatosis

      CHILDS NERVOUS SYSTEM
    46. Carey, JC; Viskochil, DH
      Neurofibromatosis type 1: A model condition for the study of the molecularbasis of variable expressivity in human disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    47. Streubel, B; Latta, E; Kehrer-Sawatzki, H; Hoffmann, GF; Fonatsch, C; Rehder, H
      Somatic mosaicism of a greater than 1.7-Mb deletion of genomic DNA involving the entire NF1 gene as verified by FISH: Further evidence for a contiguous gene syndrome in 17q11.2

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. Buske, A; Gewies, A; Lehmann, R; Ruther, K; Algermissen, B; Nurnberg, P; Tinschert, S
      Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    49. Biesecker, LG; Happle, R; Mulliken, JB; Weksberg, R; Graham, JM; Viljoen, DL; Cohen, MM
      Proteus syndrome: Diagnostic criteria, differential diagnosis, and patientevaluation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    50. Reyniers, E; Martin, JJ; Cras, P; Van Marck, E; Handig, I; Jorens, HZJ; Oostra, BA; Kooy, RF; Willems, PJ
      Postmortem examination of two fragile X brothers with an FMR1 full mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    51. Happle, R
      Elattoproteus syndrome: Delineation of an inverse form of Proteus syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    52. Klose, A; Peters, H; Hoffmeyer, S; Buske, A; Luder, A; Hess, D; Lehmann, R; Nurnberg, P; Tinschert, S
      Two independent mutations in a family with neurofibromatosis type 1 (NF1)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    53. Sanchez, MDE; Cantoni, AC; Alvarez, BM; Cruz-Alcivar, R; Sandoval, SS; Laguna, LG; Vazquez, SF
      Clinical and cytogenetic variability on twelve Fanconi anemia families andits relationship with complementation group assignment

      REVISTA DE INVESTIGACION CLINICA
    54. Kwiatkowska, J; Wigowska-Sowinska, J; Napierala, D; Slomski, R; Kwiatkowski, DJ
      Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis

      NEW ENGLAND JOURNAL OF MEDICINE
    55. Evans, DGR; Lye, R; Neary, W; Black, G; Strachan, T; Wallace, A; Ramsden, RT
      Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    56. Moncla, A; Malzac, P; Livet, MO; Voelckel, MA; Mancini, J; Delaroziere, JC; Philip, N; Mattei, JF
      Angelman syndrome resulting from UBE3A mutations in 14 patients from eightfamilies: clinical manifestations and genetic counselling

      JOURNAL OF MEDICAL GENETICS
    57. Darling, TN; Yee, C; Bauer, JW; Hintner, H; Yancey, KB
      Revertant mosaicism: partial correction of a germ-line mutation in COL17A1by a frame-restoring mutation

      JOURNAL OF CLINICAL INVESTIGATION
    58. Manley, K; Pugh, J; Messer, A
      Instability of the CAG repeat in immortalized fibroblast cell cultures from Huntington's Disease transgenic mice

      BRAIN RESEARCH
    59. Verhoef, S; Bakker, L; Tempelaars, AMP; Hesseling-Janssen, ALW; Mazurczak, T; Jozwiak, S; Fois, A; Bartalini, G; Zonnenberg, BA; van Essen, AJ; Lindhout, D; Halley, DJJ; van den Ouweland, AMW
      High rate of mosaicism in tuberous sclerosis complex

      AMERICAN JOURNAL OF HUMAN GENETICS
    60. Rose, VM; Au, KS; Pollom, G; Roach, ES; Prashner, HR; Northrup, H
      Germ-line mosaicism in tuberous sclerosis: How common?

      AMERICAN JOURNAL OF HUMAN GENETICS
    61. Farrington, SM; Dunlop, MG
      Mosaicism and sporadic familial adenomatous polyposis

      AMERICAN JOURNAL OF HUMAN GENETICS
    62. NISHIMURA G; NAGAI T
      A CASE OF CRANIOFACIAL DYSMORPHISM, CONGENITAL HEART-DEFECTS, COCCYGEAL SKIN FOLDS, GENERALIZED SKELETAL ALTERATIONS, AND HEMIHYPERTROPHY WITH LINEAR SKIN HYPOPIGMENTATION - A NEW SYNDROME

      JOURNAL OF HUMAN GENETICS
    63. TIHAN T; OKUN J
      PATHOLOGY OF LIPOMATOUS LESIONS IN PROTEUS-SYNDROME

      PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
    64. CANCEL G; GOURFINKELAN I; STEVANIN G; DIDIERJEAN O; ABBAS N; HIRSCH E; AGID Y; BRICE A
      SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE

      Human mutation
    65. CANCEL G; GOURFINKELAN I; STEVANIN G; DIDIERJEAN O; ABBAS N; HIRSCH E; AGID Y; BRICE A
      SOMATIC MOSAICISM OF THE CAG REPEAT EXPANSION IN SPINOCEREBELLAR ATAXIA TYPE-3 MACHADO-JOSEPH-DISEASE

      Human mutation
    66. LASPADA AR; PETERSON KR; MEADOWS SA; MCCLAIN ME; JENG G; CHMELAR RS; HAUGEN HA; CHEN K; SINGER MJ; MOORE D; TRASK BJ; FISCHBECK KH; CLEGG CH; MCKNIGHT GS
      ANDROGEN RECEPTOR YAC TRANSGENIC MICE CARRYING CAG-45 ALLELES SHOW TRINUCLEOTIDE REPEAT INSTABILITY

      Human molecular genetics
    67. DEMICHELE G; CAVALCANTI F; CRISCUOLO C; PIANESE L; MONTICELLI A; FILLA A; COCOZZA S
      PARENTAL GENDER, AGE AT BIRTH AND EXPANSION LENGTH INFLUENCE GAA REPEAT INTERGENERATIONAL INSTABILITY IN THE X25 GENE - PEDIGREE STUDIES AND ANALYSIS OF SPERM FROM PATIENTS WITH FRIEDREICHS ATAXIA

      Human molecular genetics (Print)
    68. SCHWEITZER JK; LIVINGSTON DM
      EXPANSIONS OF CAG REPEAT TRACTS ARE FREQUENT IN A YEAST MUTANT DEFECTIVE IN OKAZAKI FRAGMENT MATURATION

      Human molecular genetics
    69. Kluwe, L; Mautner, VF
      Mosaicism in sporadic neurofibromatosis 2 patients

      HUMAN MOLECULAR GENETICS
    70. VERMA RS; KLEYMAN SM; CONTE RA
      CHROMOSOMAL MOSAICISMS DURING PRENATAL-DIAGNOSIS

      Gynecologic and obstetric investigation
    71. ITO Y; TANAKA F; YAMAMOTO M; DOYU M; NAGAMATSU M; RIKU S; MITSUMA T; SOBUE G
      SOMATIC MOSAICISM OF THE EXPANDED CAG TRINUCLEOTIDE REPEAT IN MESSENGER-RNAS FOR THE RESPONSIBLE GENE OF MACHADO-JOSEPH-DISEASE (MJD), DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (DRPLA), AND SPINAL AND BULBAR MUSCULAR-ATROPHY (SBMA)

      Neurochemical research
    72. VINCENT JB; KALSI G; KLEMPAN T; TATUCH Y; SHERRINGTON RP; BRESCHEL T; MCINNIS MG; BRYNJOLFSSON J; PETURSSON H; GURLING HMD; GOTTESMAN II; TORREY EF; PETRONIS A; KENNEDY JL
      NO EVIDENCE OF EXPANSION OF CAG OR GAA REPEATS IN SCHIZOPHRENIA FAMILIES AND MONOZYGOTIC TWINS

      Human genetics
    73. ZLOTOGORA J
      GERM-LINE MOSAICISM

      Human genetics
    74. BRUGNONI R; MORANDI L; BRAMBATI B; BRISCIOLI V; CORNELIO F; MANTEGAZZA R
      A NEW NONRADIOACTIVE METHOD FOR THE SCREENING AND PRENATAL-DIAGNOSIS OF MYOTONIC-DYSTROPHY PATIENTS

      Journal of neurology
    75. DUTLY F; BAUMER A; KAYSERILI H; YUKSELAPAK M; ZEROVA T; HEBISCH G; SCHINZEL A
      7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11

      American journal of medical genetics
    76. COHEN MM
      PERSPECTIVES ON OVERGROWTH SYNDROMES

      American journal of medical genetics
    77. HATCHWELL E; LONG F; WILDE J; CROLLA J; TEMPLE K
      MOLECULAR CONFIRMATION OF GERM-LINE MOSAICISM FOR A SUBMICROSCOPIC DELETION OF CHROMOSOME 22Q11

      American journal of medical genetics
    78. COSTA T; AZOUZ EM; FITZPATRICK J; KAMELREID S; SMITH CR; SILVER MM
      SKELETAL DYSPLASIAS WITH GRACILE BONES - 3 NEW CASES, INCLUDING 2 OFFSPRING OF A MOTHER WITH A DWARFING CONDITION

      American journal of medical genetics
    79. DU JS; BASON L; WOFFENDIN H; ZACKAI E; KENWRICK S
      SOMATIC AND GERM-LINE MOSAICISM AND MUTATION ORIGIN FOR A MUTATION INTHE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS

      American journal of medical genetics
    80. MACHKHAS H; BIDICHANDANI SI; PATEL PI; HARATI Y
      A MILD CASE OF FRIEDREICH ATAXIA - LYMPHOCYTE AND SURAL NERVE ANALYSIS FOR GAA REPEAT LENGTH REVEALS SOMATIC MOSAICISM

      Muscle & nerve
    81. GHAREHBAGHISCHNELL E; FINSTERER J; KORSCHINECK I; MAMOLI B; BINDER BR
      MYOTONIC-DYSTROPHY - MOLECULAR-GENETICS AND DIAGNOSIS

      Wiener Klinische Wochenschrift
    82. Fishman, SJ; Mulliken, JB
      Vascular anomalies - A primer for pediatricians

      PEDIATRIC CLINICS OF NORTH AMERICA
    83. EVANS DGR; TRUEMAN L; WALLACE A; COLLINS S; STRACHAN T
      GENOTYPE PHENOTYPE CORRELATIONS IN TYPE-2 NEUROFIBROMATOSIS (NF2) - EVIDENCE FOR MORE SEVERE DISEASE-ASSOCIATED WITH TRUNCATING MUTATIONS/

      Journal of Medical Genetics
    84. RASMUSSEN SA; COLMAN SD; HO VT; ABERNATHY CR; ARN PH; WEISS L; SCHWARTZ C; SAUL RA; WALLACE MR
      CONSTITUTIONAL AND MOSAIC LARGE NF1 GENE DELETIONS IN NEUROFIBROMATOSIS TYPE-1

      Journal of Medical Genetics
    85. WU CL; THAKKER N; NEARY W; BLACK G; LYE R; RAMSDEN RT; READ AP; EVANS DGR
      DIFFERENTIAL-DIAGNOSIS OF TYPE-2 NEUROFIBROMATOSIS - MOLECULAR DISCRIMINATION OF NF2 AND SPORADIC VESTIBULAR SCHWANNOMAS

      Journal of Medical Genetics
    86. BIANCO P; KUZNETSOV SA; RIMINUCCI M; FISHER LW; SPIEGEL AM; ROBEY PG
      REPRODUCTION OF HUMAN FIBROUS DYSPLASIA OF BONE IN IMMUNOCOMPROMISED MICE BY TRANSPLANTED MOSAICS OF NORMAL AND GS-ALPHA-MUTATED SKELETAL PROGENITOR CELLS

      The Journal of clinical investigation
    87. GHAREHBAGHISCHNELL EB; FINSTERER J; KORSCHINECK I; MAMOLI B; BINDER BR
      GENOTYPE-PHENOTYPE CORRELATION IN MYOTONIC-DYSTROPHY

      Clinical genetics
    88. SMOLAREK TA; WESSNER LL; MCCORMACK FX; MYLET JC; MENON AG; HENSKE EP
      EVIDENCE THAT LYMPHANGIOMYOMATOSIS IS CAUSED BY TSC2 MUTATIONS - CHROMOSOME 16P13 LOSS OF HETEROZYGOSITY IN ANGIOMYOLIPOMAS AND LYMPH-NODESFROM WOMEN WITH LYMPHANGIOMYOMATOSIS

      American journal of human genetics
    89. BATES GP; DAVIES SW
      TRANSGENIC MOUSE MODELS OF NEURODEGENERATIVE DISEASE CAUSED BY CAG POLYGLUTAMINE EXPANSIONS/

      Molecular medicine today
    90. NG SCY; KHOO BS; HO NK
      PROTEUS SYNDROME

      Journal of paediatrics and child health
    91. BATES GP; MANGIARINI L; MAHAL A; DAVIES SW
      TRANSGENIC MODELS OF HUNTINGTONS-DISEASE

      Human molecular genetics
    92. BARONAMAZUERA MD; HIDALGOGALVAN LR; OROZCOCOVARRUBIAS MD; DURANMCKINSTER C; TAMAYOSANCHEZ L; RUIZMALDONADO R
      PROTEUS-SYNDROME - NEW FINDINGS IN 7 PATIENTS

      Pediatric dermatology
    93. NISHIMURA G; NISHIMURA J
      MULTIPLE, JUXTASUTURAL, CRANIAL HYPEROSTOSES AND CARDIAC TUMOR - A NEW HAMARTOMATOUS SYNDROME

      American journal of medical genetics
    94. FERGUSON HL; DEERE M; EVANS R; ROTTA J; HALL JG; HECHT JT
      MOSAICISM IN PSEUDOACHONDROPLASIA

      American journal of medical genetics
    95. KOMAKI S; MATSUURA T; OYANAGI K; HOSHIDE R; KIWAKI K; ENDO F; SHIMADZU M; MATSUDA I
      FAMILIAL LETHAL INHERITANCE OF A MUTATED PATERNAL GENE IN FEMALES CAUSING X-LINKED ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY

      American journal of medical genetics
    96. CATCHPOOLE D; LAM WWK; VALLER D; TEMPLE IK; JOYCE JA; REIK W; SCHOFIELD PN; MAHER ER
      EPIGENETIC MODIFICATION AND UNIPARENTAL INHERITANCE OF H19 IN BECKWITH-WIEDEMANN-SYNDROME

      Journal of Medical Genetics
    97. LOHMANN DR; GERICK M; BRANDT B; OELSCHLAGER U; LORENZ B; PASSARGE E; HORSTHEMKE B
      CONSTITUTIONAL RB1-GENE MUTATIONS IN PATIENTS WITH ISOLATED UNILATERAL RETINOBLASTOMA

      American journal of human genetics
    98. GESCHWIND DH; PERLMAN S; FIGUEROA CP; TREIMAN LJ; PULST SM
      THE PREVALENCE AND WIDE CLINICAL SPECTRUM OF THE SPINOCEREBELLAR ATAXIA TYPE-2 TRINUCLEOTIDE REPEAT IN PATIENTS WITH AUTOSOMAL-DOMINANT CEREBELLAR-ATAXIA

      American journal of human genetics
    99. LUND AM; SCHWARTZ M; RAGHUNATH M; STEINMANN B; SKOVBY F
      GLY802ASP SUBSTITUTION IN THE PROA2(I) COLLAGEN CHAIN IN A FAMILY WITH RECURRENT OSTEOGENESIS IMPERFECTA DUE TO PATERNAL MOSAICISM

      European journal of human genetics
    100. HARRIS S; MONCRIEFF C; JOHNSON K
      MYOTONIC-DYSTROPHY - WILL THE REAL GENE PLEASE STEP FORWARD

      Human molecular genetics


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Documento generato il 22/10/20 alle ore 00:51:05