Authors:
GARVIN AM
SPYCHER M
HANER M
TORHORST J
MULLER H
HERRMANN R
ROCHLITZ C
WEBER W
SCOTT RJ
Citation: Am. Garvin et al., BRCA1 MUTATIONS IN A SELECTED SERIES OF BREAST OVARIAN-CANCER PATIENTS, Journal of Medical Genetics, 33(9), 1996, pp. 721-725
Authors:
FROGGATT NJ
BRASSETT C
KOCH DJ
EVANS DGR
HODGSON SV
PONDER BAJ
MAHER ER
Citation: Nj. Froggatt et al., MUTATION SCREENING OF MSH2 AND MLH1 MESSENGER-RNA IN HEREDITARY NONPOLYPOSIS COLON-CANCER SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 726-730
Authors:
JULIANREYNIER C
EISINGER F
VENNIN P
CHABAL F
AURRAN Y
NOGUES C
BIGNON YJ
MACHELARDROUMAGNAC M
MAUGARDLOUBOUTIN C
SERIN D
BLANC B
ORSONI P
SOBOL H
Citation: C. Julianreynier et al., ATTITUDES TOWARDS CANCER PREDICTIVE TESTING AND TRANSMISSION OF INFORMATION TO THE FAMILY, Journal of Medical Genetics, 33(9), 1996, pp. 731-736
Authors:
DECRUYENAERE M
EVERSKIEBOOMS G
BOOGAERTS A
CASSIMAN JJ
CLOOSTERMANS T
DEMYTTENAERE K
DOM R
FRYNS JP
VANDENBERGHE H
Citation: M. Decruyenaere et al., PREDICTION OF PSYCHOLOGICAL FUNCTIONING ONE-YEAR AFTER THE PREDICTIVETEST FOR HUNTINGTONS-DISEASE AND IMPACT OF THE TEST RESULT ON REPRODUCTIVE DECISION-MAKING, Journal of Medical Genetics, 33(9), 1996, pp. 737-743
Authors:
WILKES D
RUTLAND P
PULLEYN LJ
REARDON W
MOSS C
ELLIS JP
WINTER RM
MALCOLM S
Citation: D. Wilkes et al., A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS, Journal of Medical Genetics, 33(9), 1996, pp. 744-748
Authors:
PIEKEDAHL S
VANAAREM A
DOBIN A
CREMERS CWRJ
KIMBERLING WJ
Citation: S. Piekedahl et al., GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-II IN A DUTCH POPULATION, Journal of Medical Genetics, 33(9), 1996, pp. 753-757
Authors:
WANG M
KISHNANI P
DECKERPHILLIPS M
KAHLER SG
CHEN YT
GODFREY M
Citation: M. Wang et al., DOUBLE MUTANT FIBRILLIN-1 (FBN1) ALLELE IN A PATIENT WITH NEONATAL MARFAN-SYNDROME, Journal of Medical Genetics, 33(9), 1996, pp. 760-763
Citation: Ho. Akesson et al., RETT-SYNDROME, CLASSICAL AND ATYPICAL - GENEALOGICAL SUPPORT FOR COMMON ORIGIN, Journal of Medical Genetics, 33(9), 1996, pp. 764-766
Authors:
TELVI L
ION A
CAREL JC
DESGUERRE I
PIRAUD M
BOUTIN AM
FEINGOLD J
PONSOT G
FELLOUS M
MCELREAVEY K
Citation: L. Telvi et al., A DUPLICATION OF DISTAL XP ASSOCIATED WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPLASTIC EXTERNAL GENITALIA, MENTAL-RETARDATION, AND MULTIPLE CONGENITAL-ABNORMALITIES, Journal of Medical Genetics, 33(9), 1996, pp. 767-771
Authors:
PIVNICK EK
VELAGALETI GVN
WILROY RS
SMITH ME
ROSE SR
TIPTON RE
THARAPEL AT
Citation: Ek. Pivnick et al., JACOBSEN-SYNDROME - REPORT OF A PATIENT WITH SEVERE EYE ANOMALIES, GROWTH-HORMONE DEFICIENCY, AND HYPOTHYROIDISM ASSOCIATED WITH DELETION-11(Q23Q25) AND REVIEW OF 52 CASES, Journal of Medical Genetics, 33(9), 1996, pp. 772-778
Citation: Pj. Morrison et Nc. Nevin, MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B (MUCOSAL NEUROMA SYNDROME, WAGENMANN-FROBOESE SYNDROME), Journal of Medical Genetics, 33(9), 1996, pp. 779-782
Authors:
MARTORELL L
ILLA I
ROSELL J
BENITEZ J
SEDANO MJ
BAIGET M
Citation: L. Martorell et al., HOMOZYGOUS MYOTONIC-DYSTROPHY - CLINICAL AND MOLECULAR STUDIES OF 3 UNRELATED CASES, Journal of Medical Genetics, 33(9), 1996, pp. 783-785
Authors:
SANTAMARIA R
TAMASI S
DELPIANO G
SEBASTIO G
ANDRIA G
BORRONE C
FALDELLA G
IZZO P
SALVATORE F
Citation: R. Santamaria et al., MOLECULAR-BASIS OF HEREDITARY FRUCTOSE INTOLERANCE IN ITALY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN THE ALDOLASE-B GENE, Journal of Medical Genetics, 33(9), 1996, pp. 786-788
Citation: My. Yip et al., CHROMOSOME 3P23 BREAK WITH RING FORMATION AND TRANSLOCATION OF DISPLACED 3P23-]PTER SEGMENT TO 6PTER, Journal of Medical Genetics, 33(9), 1996, pp. 789-792
Authors:
WALLERSTEIN R
GIBAS L
ANDERSON CE
JACKSON L
Citation: R. Wallerstein et al., DIAGNOSIS OF A COMPLEX CHROMOSOMAL REARRANGEMENT USING FLUORESCENT IN-SITU HYBRIDIZATION, Journal of Medical Genetics, 33(9), 1996, pp. 793-794
Citation: G. Rumsby et al., NON-EXPRESSION OF A COMMON MUTATION IN THE 21-HYDROXYLASE GENE - IMPLICATIONS FOR PRENATAL-DIAGNOSIS AND CARRIER TESTING, Journal of Medical Genetics, 33(9), 1996, pp. 798-799
Citation: C. Kwok et al., EVIDENCE TO EXCLUDE SOX9 AS A CANDIDATE GENE FOR XY SEX REVERSAL WITHOUT SKELETAL MALFORMATION, Journal of Medical Genetics, 33(9), 1996, pp. 800-801
Authors:
CARLES S
DESGEORGES M
GOLDMAN A
THIART R
GUITTARD C
KITAZOS CA
DERAVEL TJL
WESTWOOD ATR
CLAUSTRES M
RAMSEY M
Citation: S. Carles et al., FIRST REPORT OF CFTR MUTATIONS IN BLACK CYSTIC-FIBROSIS PATIENTS OF SOUTHERN AFRICAN ORIGIN, Journal of Medical Genetics, 33(9), 1996, pp. 802-804