AAAAAA
Results: 51-75/1909
Authors:
YORIFUJI T
MUROI J
KAWAI M
UEMATSU A
SASAKI H
MOMOI T
KAJI M
YAMANAKA C
FURUSHO K
Citation: T. Yorifuji et al., UNIPARENTAL AND FUNCTIONAL X DISOMY IN TURNER-SYNDROME PATIENTS WITH UNEXPLAINED MENTAL-RETARDATION AND X DERIVED MARKER CHROMOSOMES, Journal of Medical Genetics, 35(7), 1998, pp. 539-544
Authors:
WIECZOREK D
ENGELS H
VIERSBACH R
HENKE B
SCHWANITZ G
PASSARGE E
Citation: D. Wieczorek et al., ANALYSIS OF A FAMILIAL 3 WAY TRANSLOCATION INVOLVING CHROMOSOMES 3Q, 6Q, AND 15Q BY HIGH-RESOLUTION BANDING AND FLUORESCENT IN-SITU HYBRIDIZATION (FISH) SHOWS 2 DIFFERENT UNBALANCED KARYOTYPES IN SIBS, Journal of Medical Genetics, 35(7), 1998, pp. 545-553
Authors:
PELEG D
YANKOWITZ J
Citation: D. Peleg et J. Yankowitz, CHOROID-PLEXUS CYSTS AND ANEUPLOIDY, Journal of Medical Genetics, 35(7), 1998, pp. 554-557
Authors:
RYAN AK
BARTLETT K
CLAYTON P
EATON S
MILLS L
DONNAI D
WINTER RM
BURN J
Citation: Ak. Ryan et al., SMITH-LEMLI-OPITZ-SYNDROME - A VARIABLE CLINICAL AND BIOCHEMICAL PHENOTYPE, Journal of Medical Genetics, 35(7), 1998, pp. 558-565
Authors:
HALL CM
ELCIOGLU NH
SHAW DG
Citation: Cm. Hall et al., A DISTINCT FORM OF SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS, Journal of Medical Genetics, 35(7), 1998, pp. 566-572
IDENTIFICATION OF A COMMON LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION (C163Y) IN THE WEST OF SCOTLAND
Authors:
LEE WK
HADDAD L
MACLEOD MJ
DORRANCE AM
WILSON DJ
GAFFNEY D
DOMINICZAK MH
PACKARD CJD
DAY INM
HUMPHRIES SE
DOMINICZAK AF
Citation: Wk. Lee et al., IDENTIFICATION OF A COMMON LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION (C163Y) IN THE WEST OF SCOTLAND, Journal of Medical Genetics, 35(7), 1998, pp. 573-578
Authors:
DEVRIES BBA
HALLEY DJJ
OOSTRA BA
NIERMEIJER MF
Citation: Bba. Devries et al., THE FRAGILE-X-SYNDROME, Journal of Medical Genetics, 35(7), 1998, pp. 579-589
Authors:
NELIS E
DEJONGHE P
DEVRIENDT E
PATEL PI
MARTIN JJ
VANBROECKHOVEN C
Citation: E. Nelis et al., MUTATION ANALYSIS OF THE NERVE SPECIFIC PROMOTER OF THE PERIPHERAL MYELIN PROTEIN-22 GENE IN CMT1 DISEASE AND HNPP, Journal of Medical Genetics, 35(7), 1998, pp. 590-593
Authors:
DEMEEUS A
GUITTARD C
DESGEORGES M
CARLES S
DEMAILLE J
CLAUSTRES M
Citation: A. Demeeus et al., LINKAGE DISEQUILIBRIUM BETWEEN THE M470V VARIANT AND THE IVS8 POLYT ALLELES OF THE CFTR GENE IN CBAVD, Journal of Medical Genetics, 35(7), 1998, pp. 594-596
Authors:
SAVARIRAYAN R
BANKIER A
Citation: R. Savarirayan et A. Bankier, ACAMPOMELIC CAMPOMELIC DYSPLASIA WITH DE-NOVO 5Q-17Q RECIPROCAL TRANSLOCATION AND SEVERE PHENOTYPE, Journal of Medical Genetics, 35(7), 1998, pp. 597-599
Authors:
DESILVA D
MASSIE D
DRUMMOND J
COUZIN D
DEAN JCS
Citation: D. Desilva et al., MOSAICISM FOR A TANDEM DUPLICATION DUP(1)(Q12Q22) IN AN 18-YEAR-OLD FEMALE, Journal of Medical Genetics, 35(7), 1998, pp. 600-603
Authors:
PLOMP AS
ENGELEN JJM
ALBRECHTS JCM
DEDIESMULDERS CEM
HAMERS AJH
Citation: As. Plomp et al., 2 CASES OF PARTIAL TRISOMY 8P AND PARTIAL MONOSOMY 21Q IN A FAMILY WITH A RECIPROCAL TRANSLOCATION (8-21)(P21.1-Q22.3), Journal of Medical Genetics, 35(7), 1998, pp. 604-608
Authors:
PARK MS
HAHN SH
HONG CH
KIM JS
KIM HS
Citation: Ms. Park et al., EXTENSIVE FORM OF APLASIA-CUTIS-CONGENITA - A NEW SYNDROME, Journal of Medical Genetics, 35(7), 1998, pp. 609-611
Authors:
DEVRIENDT K
FRYNS JP
CHEN CP
Citation: K. Devriendt et al., HOLOPROSENCEPHALY IN DELETIONS OF PROXIMAL CHROMOSOME 14Q, Journal of Medical Genetics, 35(7), 1998, pp. 612-612
Authors:
KRESS W
HALLIGERKELLER B
GRIMM T
PORSCHKE H
ENGELHARDT A
GOEBEL HH
MULLERMYSOK B
Citation: W. Kress et al., NO EVIDENCE FOR HETEROGENEITY IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(7), 1998, pp. 613-614
Authors:
FRYNS JP
Citation: Jp. Fryns, ANOTHER HOLOPROSENCEPHALY LOCUS AT 7Q21.2, Journal of Medical Genetics, 35(7), 1998, pp. 614-615
Authors:
HARPER PS
Citation: Ps. Harper, MEDICAL GENETICS IN THE UK AND THE NATIONAL-HEALTH-SERVICE, Journal of Medical Genetics, 35(6), 1998, pp. 441-442
Authors:
BARBER JCK
Citation: Jck. Barber, CODE OF PRACTICE AND GUIDANCE ON HUMAN GENETIC TESTING SERVICES SUPPLIED DIRECT TO THE PUBLIC - ADVISORY-COMMITTEE ON GENETIC TESTING, Journal of Medical Genetics, 35(6), 1998, pp. 443-445
Authors:
ARASON A
JONASDOTTIR A
BARKARDOTTIR RB
BERGTHORSSON JT
TEARE MD
EASTON DF
EGILSSON V
Citation: A. Arason et al., A POPULATION STUDY OF MUTATIONS AND LOH AT BREAST-CANCER GENE LOCI INTUMORS FROM SISTER PAIRS - 2 RECURRENT MUTATIONS SEEM TO ACCOUNT FOR ALL BRCA1 BRCA2 LINKED BREAST-CANCER IN ICELAND/, Journal of Medical Genetics, 35(6), 1998, pp. 446-449
Authors:
EVANS DGR
TRUEMAN L
WALLACE A
COLLINS S
STRACHAN T
Citation: Dgr. Evans et al., GENOTYPE PHENOTYPE CORRELATIONS IN TYPE-2 NEUROFIBROMATOSIS (NF2) - EVIDENCE FOR MORE SEVERE DISEASE-ASSOCIATED WITH TRUNCATING MUTATIONS/, Journal of Medical Genetics, 35(6), 1998, pp. 450-455
Authors:
DU YZ
DICKERSON C
AYLSWORTH AS
SCHWARTZ CE
Citation: Yz. Du et al., A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS (HSAS), Journal of Medical Genetics, 35(6), 1998, pp. 456-462
Authors:
LAING IA
GOLDBLATT J
EBER E
HAYDEN CM
RYE PJ
GIBSON NA
PALMER LJ
BURTON PR
LESOUEF PN
Citation: Ia. Laing et al., A POLYMORPHISM OF THE CC16 GENE IS ASSOCIATED WITH AN INCREASED RISK OF ASTHMA, Journal of Medical Genetics, 35(6), 1998, pp. 463-467
Authors:
RASMUSSEN SA
COLMAN SD
HO VT
ABERNATHY CR
ARN PH
WEISS L
SCHWARTZ C
SAUL RA
WALLACE MR
Citation: Sa. Rasmussen et al., CONSTITUTIONAL AND MOSAIC LARGE NF1 GENE DELETIONS IN NEUROFIBROMATOSIS TYPE-1, Journal of Medical Genetics, 35(6), 1998, pp. 468-471
Authors:
CHOTAI KA
PAYNE SJ
Citation: Ka. Chotai et Sj. Payne, A RAPID, PCR BASED TEST FOR DIFFERENTIAL MOLECULAR DIAGNOSIS OF PRADER-WILLI AND ANGELMAN-SYNDROMES, Journal of Medical Genetics, 35(6), 1998, pp. 472-475
Authors:
DESAI DC
MURDAY V
PHILLIPS RKS
NEALE KF
MILLA P
HODGSON SV
Citation: Dc. Desai et al., A SURVEY OF PHENOTYPIC FEATURES IN JUVENILE POLYPOSIS, Journal of Medical Genetics, 35(6), 1998, pp. 476-481