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    1. Devriendt, K; Kim, AS; Mathijs, G; Frints, SGM; Schwartz, M; Van den Oord, JJ; Verhoef, GEG; Boogaerts, MA; Fryns, JP; You, DQ; Rosen, MK; Vandenberghe, P
      Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

      NATURE GENETICS
    2. 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 (vol 9, pg 209, 2001)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. 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
    4. Lukusa, T; Willekens, D; Lukusa, N; De Cock, P; Fryns, JP
      Terminal 6q25.3 deletion and abnormal behaviour

      GENETIC COUNSELING
    5. De Smet, L; Devriendt, K; Fryns, JP
      Further evidence for germinal mosaicism in cleft hand/cleft foot syndrome.Two affected halfsisters and normal father

      GENETIC COUNSELING
    6. Moog, U; De Die-Smulders, CEM; Schrander-Stumpel, CTRM; Engelen, JJM; Hamers, AJH; Frints, S; Fryns, JP
      Holoprosencephaly: The Maastricht experience

      GENETIC COUNSELING
    7. de Die-Smulders, CEM; Moog, U; Engelen, JJM; Peters, JJM; Damen, A; Vos, W; Fryns, JP
      Lateral facial clefts: A case report

      GENETIC COUNSELING
    8. Fryns, JP; Witters, I
      Anophthalmia/microphtalmia associated with right lateral facial cleft/microtia

      GENETIC COUNSELING
    9. Van Buggenhout, GJCM; Trijbels, JMF; Wevers, R; Trommelen, JCM; Hamel, BCJ; Brunner, HG; Fryns, JP
      Metabolic studies in older mentally retarded patients: Significance of metabolic testing and correlation with the clinical phenotype

      GENETIC COUNSELING
    10. Marcelis, C; Schrander-Stumpel, C; Engelen, J; Schoonbrood-Lenssen, A; Willemse, A; Beemer, F; Sigaudy, S; Missirian, C; Philip, N; Fryns, JP
      Wolf-Hirschhorn (4p) syndrome in adults

      GENETIC COUNSELING
    11. Smeets, E; Vandenbossche, L; Fryns, JP
      Partial distal trisomy 3p. A partial autosomal trisomy without major dysmorphic features

      GENETIC COUNSELING
    12. Witters, I; Moerman, P; Van Assche, FA; Fryns, JP
      Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence

      GENETIC COUNSELING
    13. Fryns, JP
      Micro-ablepharon of the upper eyelids and vaginal atresia

      GENETIC COUNSELING
    14. Fryns, JP; De Cock, P
      MCA/MR syndrome with occipital scalp defect and valvular pulmonary stenosis: A cryptic 7pter duplication/18qter deficiency

      GENETIC COUNSELING
    15. Witters, I; Moerman, P; Braet, P; Van Schoubroeck, D; Fryns, JP
      Sex chromosome Pentasomy (49,XXXXY) presenting with generalized oedema andhypogenitalism at 12 weeks

      GENETIC COUNSELING
    16. Couvert, P; Bienvenu, T; Aquaviva, C; Poirier, K; Moraine, C; Gendrot, C; Verloes, A; Andres, C; Le Fevre, AC; Souville, I; Steffann, J; des Portes, V; Ropers, HH; Yntema, HG; Fryns, JP; Briault, S; Chelly, J; Cherif, B
      MECP2 is highly mutated in X-linked mental retardation

      HUMAN MOLECULAR GENETICS
    17. 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
    18. de Ravel, TJL; Legius, E; Brems, H; Van Hoestenberghe, R; Gillis, P; Fryns, JP
      Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor

      CLINICAL DYSMORPHOLOGY
    19. Veugelers, M; De Cat, B; Delande, N; Esselens, C; Bonk, I; Vermeesch, J; Marynen, P; Fryns, JP; David, G
      A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 genecluster on chromosome 13q32

      MATRIX BIOLOGY
    20. Witters, I; Theyskens, C; van Hoestenberghe, R; Sieprath, P; Gyselaers, W; Fryns, JP
      Prenatal diagnosis of non-obstructive megacystis as part of the megacystis-microcolon-intestinal hypoperistalsis syndrome with favourable postnatal outcome

      PRENATAL DIAGNOSIS
    21. Witters, I; Moerman, P; Muenke, M; Van Assche, FA; Devriendt, K; Legius, E; Van Schoubroeck, D; Fryns, JP
      Semilobar holoprosencephaly in a 46,XY female fetus

      PRENATAL DIAGNOSIS
    22. Witters, I; Schreurs, J; Van Wing, J; Wouters, W; Fryns, JP
      Prenatal diagnosis of facial clefting as part of the oculo-auriculo-vertebral spectrum

      PRENATAL DIAGNOSIS
    23. Goffin, A; Hoefsloot, LH; Bosgoed, E; Swillen, A; Fryns, JP
      PTEN mutation in a family with Cowden syndrome and autism

      AMERICAN JOURNAL OF MEDICAL GENETICS
    24. Syrrou, M; Borghgraef, M; Fryns, JP
      Unusual chromosomal mosaicism in Wolf-Hirschhorn syndrome: del(4)(p16)/der(4)(qter-q31.3 :: pter-qter)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. 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
    26. Witters, I; Legius, E; Moerman, P; Deprest, J; Van Schoubroeck, D; Timmerman, D; Van Assche, FA; Fryns, JP
      Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. Peeters, H; Debeer, P; Groenen, P; Van Esch, H; Vanderlinden, G; Eyskens, B; Mertens, L; Gewillig, M; Van de Ven, W; Fryns, JP; Devriendt, K
      Brief clinical report - Recurrent involvement of chromosomal region 6q21 in heterotaxy

      AMERICAN JOURNAL OF MEDICAL GENETICS
    28. Fryns, JP; Moerman, P
      Popliteal pterygium and multiple pterygium syndromes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    29. Syrrou, M; Fryns, JP
      Interstitial deletion of chromosome 11 (q22.3-q23.2) in a boy with mild developmental delay

      JOURNAL OF MEDICAL GENETICS
    30. Witters, I; Legius, E; Devriendt, K; Moerman, P; Van Schoubroeck, D; Van Assche, A; Fryns, JP
      Pregnancy outcome and long term prognosis in 868 children born after second trimester amniocentesis for maternal serum positive triple test screeningand normal prenatal karyotype

      JOURNAL OF MEDICAL GENETICS
    31. Casteels, I; Devriendt, K; Leys, A; Van Cleynenbreugel, H; Demaerel, P; De Tavernier, F; Fryns, JP
      Autosomal dominant microcephaly-lymphoedema-chorioretinal dysplasia syndrome

      BRITISH JOURNAL OF OPHTHALMOLOGY
    32. de Ravel, TJL; Matthijs, G; Fryns, JP
      An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter -> 18q12.2

      ANNALES DE GENETIQUE
    33. Frints, SGM; Fryns, JP; Lagae, L; Syrrou, M; Marynen, P; Devriendt, K
      Xp22.3;Yq11.2 chromosome translocation and its clinical manifestations

      ANNALES DE GENETIQUE
    34. Van Buggenhout, GJCM; van Ravenswaaij-Arts, C; Mieloo, H; Syrrou, M; Hamel, B; Brunner, H; Fryns, JP
      Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients

      ANNALES DE GENETIQUE
    35. Van Buggenhout, GJCM; Trommelen, JCM; Brunner, HG; Hamel, BCJ; Fryns, JP
      The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)

      ANNALES DE GENETIQUE
    36. van Bokhoven, H; Hamel, BCJ; Bamshad, M; Sangiorgi, E; Gurrieri, F; Duijf, PHG; Vanmolkot, KRJ; van Beusekom, E; van Beersum, SEC; Celli, J; Merkx, GFM; Tenconi, R; Fryns, JP; Verloes, A; Newbury-Ecob, RA; Raas-Rotschild, A; Majewski, F; Beemer, FA; Janecke, A; Chitayat, D; Crisponi, G; Kayserili, H; Yates, JRW; Neri, G; Brunner, HG
      p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation

      AMERICAN JOURNAL OF HUMAN GENETICS
    37. Kutsche, K; Yntema, H; Brandt, A; Jantke, I; Nothwang, HG; Orth, U; Boavida, MG; David, D; Chelly, J; Fryns, JP; Moraine, C; Ropers, HH; Hamel, BCJ; van Bokhoven, H; Gal, A
      Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

      NATURE GENETICS
    38. Zemni, R; Bienvenu, T; Vinet, MC; Sefiani, A; Carrie, A; Billuart, P; McDonell, N; Couvert, P; Francis, F; Chafey, P; Fauchereau, F; Friocourt, G; des Portes, V; Cardona, A; Frints, S; Meindl, A; Brandau, O; Ronce, N; Moraine, C; van Bokhoven, H; Ropers, HH; Sudbrak, R; Kahn, A; Fryns, JP; Beldjord, R; Chelly, J
      A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation

      NATURE GENETICS
    39. Debeer, P; Schoenmakers, EFPM; Thoelen, R; Holvoet, M; Kuittinen, T; Fabry, G; Fryns, JP; Goodman, FR; Van de Ven, WJM
      Physical map of a 1.5 Mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint

      EUROPEAN JOURNAL OF HUMAN GENETICS
    40. Goossens, E; Steyaert, J; De Die-Smulders, C; Willekens, D; Fryns, JP
      Emotional and behavioral profile and child psychiatric diagnosis in the childhood type of myotonic dystrophy

      GENETIC COUNSELING
    41. Van Buggenhout, GJCM; Descheemaeker, MJ; Thiry, P; Trommelen, JCM; Hamel, BCJ; Fryns, JP
      Angelman syndrome in three adult patients with atypical presentation and severe neurological complications

      GENETIC COUNSELING
    42. Witters, I; Van Ranst, M; Fryns, JP
      Cytomegalovirus reactivation in pregnancy and subsequent isolated bilateral hearing loss in the infant

      GENETIC COUNSELING
    43. Fryns, JP
      MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients

      GENETIC COUNSELING
    44. Witters, I; Moerman, P; Fryns, JP
      Prenatal echographic diagnosis of laryngeal atresia as part of a multiple congenital anomalies (MCA) syndrome

      GENETIC COUNSELING
    45. Vantrappen, G; Feenstra, L; Fryns, JP
      Conductive hearing loss and multiple pre- and supra-auricular skin defects: a variant example of the branchio-oculo-facial syndrome

      GENETIC COUNSELING
    46. Fryns, JP
      Hypersplenism and portal hypertension with vena porta thrombosis in cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type, MIM*250250)

      GENETIC COUNSELING
    47. Fryns, JP
      Penile Agenesis as an isolated malformation: a rare example of sexual ambiguity at birth

      GENETIC COUNSELING
    48. Willekens, D; De Cock, P; Fryns, JP
      Three young children with Smith-Magenis syndrome: Their distinct, recognisable behavioural phenotype as the most important clinical symptoms

      GENETIC COUNSELING
    49. Garavelli, L; Donadio, A; Banchini, G; Magnani, C; Magnani, C; Calzolari, E; Fryns, JP
      Marden-Walker syndrome: Case report, nosologic discussion and aspects of counseling

      GENETIC COUNSELING
    50. Lukusa, T; Fryns, JP
      Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence

      GENETIC COUNSELING
    51. Fryns, JP
      In memoriam - Charles Piussan (1934-1999)

      GENETIC COUNSELING
    52. Witters, I; Fryns, JP
      Prenatal diagnosis of central nervous system abnormalities: Diagnostic possibilities and limitations of fetal neurosonography

      GENETIC COUNSELING
    53. Vantrappen, G; Feenstra, L; Macours-Verelst, C; Fryns, JP
      Mandibulo-acral dysplasia in a one-year-old boy

      GENETIC COUNSELING
    54. Fryns, JP; Devriendt, K
      On the nosology of van der Woude syndrome and Popliteal Pterygium syndrome: Implications for genetic counseling

      GENETIC COUNSELING
    55. Witters, I; Moerman, P; Jankelevitch, E; Van Assche, A; Fryns, JP
      Cystic hygroma colli in triplo-X syndrome

      GENETIC COUNSELING
    56. Plissart, L; Fryns, JP
      Early development (5 to 48 months) in Williams syndrome. A study of 14 children (vol 10, pg 151, 1999)

      GENETIC COUNSELING
    57. Veugelers, M; De Cat, B; Muyldermans, SY; Reekmans, G; Delande, N; Frints, S; Legius, E; Fryns, JP; Schrander-Stumpel, C; Weidle, B; Magdalena, N; David, G
      Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene

      HUMAN MOLECULAR GENETICS
    58. 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
    59. 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
    60. Potgieter, S; Matthijs, G; De Cock, P; Fryns, JP
      Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7

      EUROPEAN JOURNAL OF PEDIATRICS
    61. Nothwang, HG; Schroer, A; van der Maarel, S; Kubart, S; Schneider, S; Riesselmann, L; Menzel, C; Hinzmann, B; Vogt, D; Rosenthal, A; Fryns, JP; Tommerup, N; Haaf, T; Ropers, HH; Wirth, J
      Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations

      CYTOGENETICS AND CELL GENETICS
    62. Witters, I; Devriendt, K; Moerman, P; van Hole, C; Fryns, JP
      Diaphragmatic hernia as the first echographic sign in Apert syndrome

      PRENATAL DIAGNOSIS
    63. Swillen, A; Vogels, A; Devriendt, K; Fryns, JP
      Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

      AMERICAN JOURNAL OF MEDICAL GENETICS
    64. Steyaert, J; de Die-Smulders, C; Fryns, JP; Goossens, E; Willekens, D; Fryns, JP
      Behavioral phenotype in childhood type of dystrophia myotonica

      AMERICAN JOURNAL OF MEDICAL GENETICS
    65. Schroer, A; Scheer, MP; Zacharias, S; Schneider, S; Ropers, HH; Nothwang, HG; Chelly, J; Hamel, B; Fryns, JP; Shaw, P; Moraine, C
      Cosegregation of T108A Elk-1 with mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    66. Fryns, JP
      Partial trisomy 4p and Brachmann-de Lange syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    67. Fryns, JP; Borghgraef, M; Brown, TW; Chelly, J; Fisch, GS; Hamel, B; Hanauer, A; Lacombe, D; Luo, L; MacPherson, JN; Mandel, JL; Moraine, C; Mulley, J; Nelson, D; Oostra, B; Partington, M; Ramakers, GJA; Ropers, HH; Rousseau, F; Schwartz, C; Steinbach, P; Stoll, C; Tranebjaerg, L; Turner, G; Van Bokhoven, H; Vianna-Morgante, A; Villard, L; Warren, ST
      9th international workshop on fragile X syndrome and X-linked mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    68. Claes, S; Devriendt, K; Van Goethem, G; Roelen, L; Meireleire, J; Raeymaekers, P; Cassiman, JJ; Fryns, JP
      Novel syndromic form of X-linked complicated spastic paraplegia

      AMERICAN JOURNAL OF MEDICAL GENETICS
    69. Bienvenu, T; des Portes, V; McDonell, N; Carrie, A; Zemni, R; Couvert, P; Ropers, HH; Moraine, C; van Bokhoven, H; Fryns, JP; Allen, K; Walsh, CA; Boue, J; Kahn, A; Chelly, J; Beldjord, C
      Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    70. Keymolen, K; Van Damme-Lombaerts, R; Verloes, A; Fryns, JP
      Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity

      AMERICAN JOURNAL OF MEDICAL GENETICS
    71. Lukusa, T; Devriendt, K; Holvoet, M; Fryns, JP
      Dicentric chromosome 9 due to tandem duplication of the 9p11-q13 region: Unusual chromosome 9 variant

      AMERICAN JOURNAL OF MEDICAL GENETICS
    72. Devriendt, K; Fryns, JP; Naulaers, G; Devlieger, H; Alliet, P
      Neuroblastoma in a mother and congenital central hypoventilation in her daughter: Variable expression of the same genetic disorder?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    73. Van Buggenhout, GJCM; Pijkels, E; Holvoet, M; Schaap, C; Hamel, BCJ; Fryns, JP
      Cri du chat syndrome: Changing phenotype in older patients

      AMERICAN JOURNAL OF MEDICAL GENETICS
    74. Knopf, C; Rod, R; Jaeken, J; Berant, M; Van Schaftingen, E; Fryns, JP; Brill-Zamir, R; Gershoni-Baruch, R; Lischinsky, S; Mandel, H
      Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

      JOURNAL OF INHERITED METABOLIC DISEASE
    75. Maes, B; Fryns, JP; Ghesquiere, P; Borghgraef, M
      Phenotypic checklist to screen for fragile X syndrome in people with mental retardation

      MENTAL RETARDATION
    76. Van Esch, H; Groenen, P; Nesbit, MA; Schuffenhauer, S; Lichtner, P; Vanderlinden, G; Harding, B; Beetz, R; Bilous, RW; Holdaway, I; Shaw, NJ; Fryns, JP; Van de Ven, WV; Thakker, RV; Devriendt, K
      GATA3 haplo-insufficiency causes human HDR syndrome

      NATURE
    77. Fryns, JP; Aftimos, S
      New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes

      JOURNAL OF MEDICAL GENETICS
    78. Schreurs, A; Legius, E; Meuleman, C; Fryns, JP; D'Hooghe, TM
      Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection

      FERTILITY AND STERILITY
    79. Devriendt, K; Holvoet, M; De Muelenaere, A; Fryns, JP
      The Haspeslagh syndrome (MIM 177980) is caused by an unbalanced reciprocal6q/9p translocation

      CLINICAL GENETICS
    80. Vogels, A; Devriendt, K; Vermeesch, JR; Van Dael, R; Marynen, P; Dewaele, P; Hageman, J; Holvoet, M; Fryns, JP
      Cryptic translocation t(5;18) in familial mental retardation

      ANNALES DE GENETIQUE
    81. Jamieson, CR; Fryns, JP; Jacobs, J; Matthijs, G; Abramowicz, MJ
      Primary autosomal recessive microcephaly: MCPH5 maps to 1q25-q32

      AMERICAN JOURNAL OF HUMAN GENETICS
    82. Meloni, I; Bruttini, M; Longo, I; Mari, F; Rizzolio, F; D'Adamo, P; Denvriendt, K; Fryns, JP; Toniolo, D; Renieri, A
      A mutation in the Rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

      AMERICAN JOURNAL OF HUMAN GENETICS
    83. Goodman, FR; Bacchelli, C; Brady, AF; Brueton, LA; Fryns, JP; Mortlock, DP; Innis, JW; Holmes, LB; Donnenfeld, AE; Feingold, M; Beemer, FA; Hennekam, RCM; Scambler, PJ
      Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome

      AMERICAN JOURNAL OF HUMAN GENETICS
    84. Carrie, A; Jun, L; Bienvenu, T; Vinet, MC; McDonell, N; Couvert, P; Zemni, R; Cardona, A; Van Buggenhout, G; Frints, S; Hamel, B; Moraine, C; Ropers, HH; Strom, T; Howell, GR; Whittaker, A; Ross, MT; Kahn, A; Fryns, JP; Beldjord, C; Marynen, P; Chelly, J
      A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

      NATURE GENETICS
    85. Munroe, PB; Olgunturk, RO; Fryns, JP; Van Maldergem, L; Ziereisen, F; Yuksel, B; Gardiner, RM; Chung, E
      Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

      NATURE GENETICS
    86. Nelen, MR; Kremer, H; Konings, IBM; Schoute, F; van Essen, AJ; Koch, R; Woods, CG; Fryns, JP; Hamel, B; Hoefsloot, LH; Peeters, EAJ; Padberg, GW
      Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations

      EUROPEAN JOURNAL OF HUMAN GENETICS
    87. De Paepe, A; Loeys, B; Devriendt, K; Fryns, JP
      Occipital Horn syndrome in a 2-year-old boy

      CLINICAL DYSMORPHOLOGY
    88. Lukusa, T; Devriendt, K; Jaeken, J; Fryns, JP
      Mild dysmorphic signs in two male sibs with partial trisomy 2q32.1 -> q35 due to maternal ins(14;2) translocation

      CLINICAL DYSMORPHOLOGY
    89. Yntema, HG; van den Helm, B; Kissing, J; van Duijnhoven, G; Poppelaars, F; Chelly, J; Moraine, C; Fryns, JP; Hamel, BCJ; Heilbronner, H; Pander, HJ; Brunner, HG; Ropers, HH; Cremers, FPM; van Bokhoven, H
      A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation

      GENOMICS
    90. van den Borne, HW; van Hooren, RH; van Gestel, M; Rienmeijer, P; Fryns, JP; Curfs, LMG
      Psychosocial problems, coping strategies, and the need for information of parents of children with Prader-Willi syndrome and Angelman syndrome

      PATIENT EDUCATION AND COUNSELING
    91. Vermeesch, JR; Duhamel, H; Petit, P; Falzetti, D; Fryns, JP; Marynen, P
      Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded male

      HUMAN GENETICS
    92. des Portes, V; Beldjord, C; Chelly, J; Hamel, B; Kremer, H; Smits, A; van Bokhoven, H; Ropers, HH; Claes, S; Fryns, JP; Ronce, N; Gendrot, C; Toutain, A; Raynaud, M; Moraine, C
      X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR Consortium

      AMERICAN JOURNAL OF MEDICAL GENETICS
    93. Claes, S; Volcke, P; Devriendt, K; Holvoet, M; Raeymaekers, P; Cassiman, JJ; Fryns, JP
      Regional localization of a gene for nonspecific XLMR to Xp11.3-p11.23 (MRX51) and tentative localization of an MRX gene to Xq23-q26.1

      AMERICAN JOURNAL OF MEDICAL GENETICS
    94. Devriendt, K; Holvoet, M; Fryns, JP
      Follow-up of an adult with Keutel syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    95. Fisch, GS; Carpenter, N; Holden, JJA; Howard-Peebles, PN; Maddalena, A; Borghgraef, M; Steyaert, J; Fryns, JP
      Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    96. Fryns, JP
      On the nosology of severe acrofacial dysostosis with limb deficiency

      AMERICAN JOURNAL OF MEDICAL GENETICS
    97. Devriendt, K; Fryns, JP; Moerman, P; Vanhole, C; Devlieger, H
      Letter to the Editor - Heterogeneity in omphalocoele with absent radial ray complex

      AMERICAN JOURNAL OF MEDICAL GENETICS
    98. Shashi, V; Pallos, D; Pettenati, MJ; Cortelli, JR; Fryns, JP; von Kap-Herr, C; Hart, TC
      Genetic heterogeneity of gingival fibromatosis on chromosome 2p

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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 08:52:57