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Table of contents of journal: *Journal of medical genetics

Results: 1-25/1909
MEDICAL COMPLICATIONS OF ACHONDROPLASIA - A MULTICENTER PATIENT REVIEW
Authors: HUNTER AGW BANKIER A ROGERS JG SILLENCE D SCOTT CI
Citation: Agw. Hunter et al., MEDICAL COMPLICATIONS OF ACHONDROPLASIA - A MULTICENTER PATIENT REVIEW, Journal of Medical Genetics, 35(9), 1998, pp. 705-712
SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE
Authors: DELATYCKI MB PARIS D GARDNER RJM FORSHAW K NICHOLSON GA NASSIF N WILLIAMSON R FORREST SM
Citation: Mb. Delatycki et al., SPERM DNA ANALYSIS IN A FRIEDREICH ATAXIA PREMUTATION CARRIER SUGGESTS BOTH MEIOTIC AND MITOTIC EXPANSION IN THE FRDA GENE, Journal of Medical Genetics, 35(9), 1998, pp. 713-716
OVINE NEURONAL CEROID-LIPOFUSCINOSIS - A LARGE ANIMAL-MODEL SYNTENIC WITH THE HUMAN NEURONAL CEROID-LIPOFUSCINOSIS VARIANT CLN6
Authors: BROOM MF ZHOU CM BROOM JE BARWELL KJ JOLLY RD HILL DF
Citation: Mf. Broom et al., OVINE NEURONAL CEROID-LIPOFUSCINOSIS - A LARGE ANIMAL-MODEL SYNTENIC WITH THE HUMAN NEURONAL CEROID-LIPOFUSCINOSIS VARIANT CLN6, Journal of Medical Genetics, 35(9), 1998, pp. 717-721
DEL(18P) SHOWN TO BE A CRYPTIC TRANSLOCATION USING A MULTIPROBE FISH ASSAY FOR SUBTELOMERIC CHROMOSOME REARRANGEMENTS
Authors: HORSLEY SW KNIGHT SJL NIXON J HUSON S FITCHETT M BOONE RA HILTONJONES D FLINT J KEARNEY L
Citation: Sw. Horsley et al., DEL(18P) SHOWN TO BE A CRYPTIC TRANSLOCATION USING A MULTIPROBE FISH ASSAY FOR SUBTELOMERIC CHROMOSOME REARRANGEMENTS, Journal of Medical Genetics, 35(9), 1998, pp. 722-726
MOLECULAR, CYTOGENETIC, AND CLINICAL CHARACTERIZATION OF 6 XX MALES INCLUDING ONE PRENATAL-DIAGNOSIS
Authors: MARGARIT E SOLER A CARRIO A OLIVA R COSTA D VENDRELL T ROSELL J BALLESTA F
Citation: E. Margarit et al., MOLECULAR, CYTOGENETIC, AND CLINICAL CHARACTERIZATION OF 6 XX MALES INCLUDING ONE PRENATAL-DIAGNOSIS, Journal of Medical Genetics, 35(9), 1998, pp. 727-730
FAMILY HISTORY OF BREAST-CANCER - WHAT DO WOMEN UNDERSTAND AND RECALLABOUT THEIR GENETIC RISK
Authors: WATSON M DUVIVIER V WALSH MW ASHLEY S DAVIDSON J PAPAIKONOMOU M MURDAY V SACKS N EELES R
Citation: M. Watson et al., FAMILY HISTORY OF BREAST-CANCER - WHAT DO WOMEN UNDERSTAND AND RECALLABOUT THEIR GENETIC RISK, Journal of Medical Genetics, 35(9), 1998, pp. 731-738
MEN IN BREAST-CANCER FAMILIES - A PRELIMINARY QUALITATIVE STUDY OF AWARENESS AND EXPERIENCE
Authors: MCALLISTER MF EVANS DGR ORMISTON W DALY P
Citation: Mf. Mcallister et al., MEN IN BREAST-CANCER FAMILIES - A PRELIMINARY QUALITATIVE STUDY OF AWARENESS AND EXPERIENCE, Journal of Medical Genetics, 35(9), 1998, pp. 739-744
PREDICTING ADAPTATION TO PRESYMPTOMATIC DNA TESTING FOR LATE-ONSET DISORDERS - WHO WILL EXPERIENCE DISTRESS
Authors: DUDOKDEWIT AC TIBBEN A DUIVENVOORDEN HJ NIERMEIJER MF PASSCHIER J
Citation: Ac. Dudokdewit et al., PREDICTING ADAPTATION TO PRESYMPTOMATIC DNA TESTING FOR LATE-ONSET DISORDERS - WHO WILL EXPERIENCE DISTRESS, Journal of Medical Genetics, 35(9), 1998, pp. 745-754
4 SIBS WITH DISLOCATED ELBOWS, BOWED TIBIAE, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL-RETARDATION - A NEW MCA MR SYNDROME/
Authors: MEGARBANE A KHARRAT K KREICHATI G
Citation: A. Megarbane et al., 4 SIBS WITH DISLOCATED ELBOWS, BOWED TIBIAE, SCOLIOSIS, DEAFNESS, CATARACT, MICROCEPHALY, AND MENTAL-RETARDATION - A NEW MCA MR SYNDROME/, Journal of Medical Genetics, 35(9), 1998, pp. 755-758
SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: TEEBI AS MILLER S OSTRER H EYDOUX P COLOMBBROCKMANN C OUDJHANE K WATTERS G
Citation: As. Teebi et al., SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 759-762
FAMILIAL CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS - CAP SYNDROME
Authors: FLANAGAN N BOYADJIEV SA HARPER J KYNE L EARLEY M WATSON R JABS EW GERAGHTY MT
Citation: N. Flanagan et al., FAMILIAL CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS - CAP SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 763-766
BALLER-GEROLD-SYNDROME ASSOCIATED WITH CONGENITAL PORTAL VENOUS MALFORMATION
Authors: SAVARIRAYAN R TOMLINSON P THOMPSON E
Citation: R. Savarirayan et al., BALLER-GEROLD-SYNDROME ASSOCIATED WITH CONGENITAL PORTAL VENOUS MALFORMATION, Journal of Medical Genetics, 35(9), 1998, pp. 767-769
FINE LOCALIZATION OF THE GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHYON CHROMOSOME 17P
Authors: HUGHES AE LOTERY AJ SILVESTRI G
Citation: Ae. Hughes et al., FINE LOCALIZATION OF THE GENE FOR CENTRAL AREOLAR CHOROIDAL DYSTROPHYON CHROMOSOME 17P, Journal of Medical Genetics, 35(9), 1998, pp. 770-772
FURTHER REFINEMENT OF THE USHER 2A LOCUS AT 1Q41
Authors: BESSANT DAR PAYNE AM PLANT C BIRD AC BHATTACHARYA SS
Citation: Dar. Bessant et al., FURTHER REFINEMENT OF THE USHER 2A LOCUS AT 1Q41, Journal of Medical Genetics, 35(9), 1998, pp. 773-774
RECURRENCE OF THE D409H MUTATION IN SPANISH GAUCHER-DISEASE PATIENTS - DESCRIPTION OF A NEW HOMOZYGOUS PATIENT AND HAPLOTYPE ANALYSIS
Authors: CHABAS A GORT L MONTFORT M CASTELLO F DOMINGUEZ MC GRINBERG D VILAGELIU L
Citation: A. Chabas et al., RECURRENCE OF THE D409H MUTATION IN SPANISH GAUCHER-DISEASE PATIENTS - DESCRIPTION OF A NEW HOMOZYGOUS PATIENT AND HAPLOTYPE ANALYSIS, Journal of Medical Genetics, 35(9), 1998, pp. 775-777
IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION
Authors: TUPLER R BARBIERATO L MEMMI M SEWRY CA DEGRANDIS D MARASCHIO P TIEPOLO L FERLINI A
Citation: R. Tupler et al., IDENTICAL DE-NOVO MUTATION AT THE D4F104S1 LOCUS IN MONOZYGOTIC MALE TWINS AFFECTED BY FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD) WITH DIFFERENT CLINICAL EXPRESSION, Journal of Medical Genetics, 35(9), 1998, pp. 778-783
PATERNALLY INHERITED DELETION OF CSH1 IN A PATIENT WITH SILVER-RUSSELL-SYNDROME
Authors: EGGERMANN T EGGERMANN K MERGENTHALER S KUNER R KAISER P RANKE MB WOLLMANN HA
Citation: T. Eggermann et al., PATERNALLY INHERITED DELETION OF CSH1 IN A PATIENT WITH SILVER-RUSSELL-SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 784-786
A NEW DOMINANT RETINITIS-PIGMENTOSA FAMILY MAPPING TO THE RP18 LOCUS ON CHROMOSOME 1Q11-21
Authors: INGLEHEARN CF TARTTELIN EE KEEN TJ BHATTACHARYA SS MOORE AT TAYLOR R BIRD AC
Citation: Cf. Inglehearn et al., A NEW DOMINANT RETINITIS-PIGMENTOSA FAMILY MAPPING TO THE RP18 LOCUS ON CHROMOSOME 1Q11-21, Journal of Medical Genetics, 35(9), 1998, pp. 788-789
FREQUENCY OF INHERITED DELETIONS OF 22Q11
Authors: THOMPSON PW DAVIES SJ
Citation: Pw. Thompson et Sj. Davies, FREQUENCY OF INHERITED DELETIONS OF 22Q11, Journal of Medical Genetics, 35(9), 1998, pp. 789-789
THE ANNUAL INCIDENCE OF DIGEORGE VELOCARDIOFACIAL SYNDROME/
Authors: DEVRIENDT K FRYNS JP MORTIER G
Citation: K. Devriendt et al., THE ANNUAL INCIDENCE OF DIGEORGE VELOCARDIOFACIAL SYNDROME/, Journal of Medical Genetics, 35(9), 1998, pp. 789-790
PTEN AND PROSTATE-CANCER
Authors: FACHER EA LAW JC
Citation: Ea. Facher et Jc. Law, PTEN AND PROSTATE-CANCER, Journal of Medical Genetics, 35(9), 1998, pp. 790-790
SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND
Authors: MUNROE PB GREENE NDE LEUNG KY MOLE SE GARDINER RM MITCHISON HM STEPHENSON JBP CROW YJ
Citation: Pb. Munroe et al., SHARING OF PPT MUTATIONS BETWEEN DISTINCT CLINICAL FORMS OF NEURONAL CEROID-LIPOFUSCINOSES IN PATIENTS FROM SCOTLAND, Journal of Medical Genetics, 35(9), 1998, pp. 790-790
INSTABILITY IN THE NORMAL CTG REPEAT RANGE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: MEINER A THAMM B STRENGE S FROSTER U
Citation: A. Meiner et al., INSTABILITY IN THE NORMAL CTG REPEAT RANGE AT THE MYOTONIC-DYSTROPHY LOCUS, Journal of Medical Genetics, 35(9), 1998, pp. 791-791
HIRSCHSPRUNG-DISEASE, MICROCEPHALY, MENTAL-RETARDATION, AND CHARACTERISTIC FACIAL FEATURES - DELINEATION OF A NEW SYNDROME AND IDENTIFICATION OF A LOCUS AT CHROMOSOME 2Q22-Q23
Authors: MOWAT DR CROAKER GDH CASS DT KERR BA CHAITOW J ADIS LC CHIA NL WILSON MJ
Citation: Dr. Mowat et al., HIRSCHSPRUNG-DISEASE, MICROCEPHALY, MENTAL-RETARDATION, AND CHARACTERISTIC FACIAL FEATURES - DELINEATION OF A NEW SYNDROME AND IDENTIFICATION OF A LOCUS AT CHROMOSOME 2Q22-Q23, Journal of Medical Genetics, 35(8), 1998, pp. 617-623
MINOR DISEASE FEATURES IN NEUROFIBROMATOSIS TYPE-1 (NF1) AND THEIR POSSIBLE VALUE IN DIAGNOSIS OF NF1 IN CHILDREN LESS-THAN-OR-EQUAL-TO-6 YEARS AND CLINICALLY SUSPECTED OF HAVING NF1
Authors: CNOSSEN MH MOONS KGM GARSSEN MPJ PASMANS NMT DEGOEDEBOLDER A NIERMEIJER MF GROBBEE DE
Citation: Mh. Cnossen et al., MINOR DISEASE FEATURES IN NEUROFIBROMATOSIS TYPE-1 (NF1) AND THEIR POSSIBLE VALUE IN DIAGNOSIS OF NF1 IN CHILDREN LESS-THAN-OR-EQUAL-TO-6 YEARS AND CLINICALLY SUSPECTED OF HAVING NF1, Journal of Medical Genetics, 35(8), 1998, pp. 624-627
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