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Results: 26-50/1909
Authors:
KASTE SC
PIVNICK EK
Citation: Sc. Kaste et Ek. Pivnick, BONY ORBITAL MORPHOLOGY IN NEUROFIBROMATOSIS TYPE-1 (NF1), Journal of Medical Genetics, 35(8), 1998, pp. 628-631
Authors:
MORGAN L
CRAWSHAW S
BAKER PN
BROOKFIELD JFY
PIPKIN FB
KALSHEKER N
Citation: L. Morgan et al., DISTORTION OF MATERNAL-FETAL ANGIOTENSIN-II TYPE-1 RECEPTOR ALLELE TRANSMISSION IN PREECLAMPSIA, Journal of Medical Genetics, 35(8), 1998, pp. 632-636
Authors:
MURRAY A
WEBB J
GRIMLEY S
CONWAY G
JACOBS P
Citation: A. Murray et al., STUDIES OF FRAXA AND FRAXE IN WOMEN WITH PREMATURE OVARIAN FAILURE, Journal of Medical Genetics, 35(8), 1998, pp. 637-640
Authors:
GEHRIG A
FELBOR U
KELSELL RE
HUNT DM
MAUMENEE IH
WEBER BHF
Citation: A. Gehrig et al., ASSESSMENT OF THE INTERPHOTORECEPTOR MATRIX PROTEOGLYCAN-1 (IMPG1) GENE LOCALIZED TO 6Q13-Q15 IN AUTOSOMAL-DOMINANT STARGARDT-LIKE DISEASE (ADSTGD), PROGRESSIVE BIFOCAL CHORIORETINAL ATROPHY (PBCRA), AND NORTH-CAROLINA MACULAR DYSTROPHY (MCDR1), Journal of Medical Genetics, 35(8), 1998, pp. 641-645
Authors:
TIMMS KM
EDWARDS FJ
BELMONT JW
YATES JRW
GIBBS RA
Citation: Km. Timms et al., REASSESSMENT OF BIOCHEMICALLY DETERMINED HUNTER-SYNDROME CARRIER STATUS BY DNA TESTING, Journal of Medical Genetics, 35(8), 1998, pp. 646-649
Authors:
SJARIF DR
SINKE RJ
DURAN M
BEEMER FA
KLEIJER WJ
VANAMSTEL JKP
POLLTHE BT
Citation: Dr. Sjarif et al., CLINICAL HETEROGENEITY AND NOVEL MUTATIONS IN THE GLYCEROL KINASE GENE IN 3 FAMILIES WITH ISOLATED GLYCEROL KINASE-DEFICIENCY, Journal of Medical Genetics, 35(8), 1998, pp. 650-656
Authors:
MULLER F
DOMMERGUES M
SIMONBOUY B
FEREC C
OURY JF
AUBRY MC
BESSIS R
VUILLARD E
DENAMUR E
BIENVENU T
SERRE JL
Citation: F. Muller et al., CYSTIC-FIBROSIS SCREENING - A FETUS WITH HYPERECHOGENIC BOWEL MAY BE THE INDEX CASE, Journal of Medical Genetics, 35(8), 1998, pp. 657-660
Authors:
KALTER H
Citation: H. Kalter, CONGENITAL-MALFORMATIONS - AN INQUIRY INTO CLASSIFICATION AND NOMENCLATURE, Journal of Medical Genetics, 35(8), 1998, pp. 661-665
Authors:
GASPARINI P
DEFAZIO A
CROCE AI
STANZIALE P
ZELANTE L
Citation: P. Gasparini et al., USHER-SYNDROME TYPE-III (USH3) LINKED TO CHROMOSOME 3Q IN AN ITALIAN FAMILY, Journal of Medical Genetics, 35(8), 1998, pp. 666-667
Authors:
HANDOKO HY
WIRAPATI PJ
SUDOYO HA
SITEPU M
MARZUKI S
Citation: Hy. Handoko et al., MEIOTIC BREAKPOINT MAPPING OF A PROPOSED X-LINKED VISUAL-LOSS SUSCEPTIBILITY LOCUS IN LEBERS HEREDITARY OPTIC NEUROPATHY, Journal of Medical Genetics, 35(8), 1998, pp. 668-671
DE-NOVO PRESENILIN-1 MUTATIONS ARE RARE IN CLINICALLY SPORADIC, EARLY-ONSET ALZHEIMERS-DISEASE CASES
Authors:
DUMANCHIN C
BRICE A
CAMPION D
HANNEQUIN D
MARTIN C
MOREAU V
AGID Y
MARTINEZ M
CLERGETDARPOUX F
FREBOURG T
Citation: C. Dumanchin et al., DE-NOVO PRESENILIN-1 MUTATIONS ARE RARE IN CLINICALLY SPORADIC, EARLY-ONSET ALZHEIMERS-DISEASE CASES, Journal of Medical Genetics, 35(8), 1998, pp. 672-673
Authors:
PARSONS DW
MCANDREW PE
ALLINSON PS
PARKER WD
BURGHES AHM
PRIOR TW
Citation: Dw. Parsons et al., DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY IN AN SMN NONDELETION PATIENT USING A QUANTITATIVE PCR SCREEN AND MUTATION ANALYSIS, Journal of Medical Genetics, 35(8), 1998, pp. 674-676
Authors:
PASSOSBUENO MR
RICHIERICOSTA A
SERTIE AL
KNEPPERS A
Citation: Mr. Passosbueno et al., PRESENCE OF THE APERT CANONICAL S252W FGFR2 MUTATION IN A PATIENT WITHOUT SEVERE SYNDACTYLY, Journal of Medical Genetics, 35(8), 1998, pp. 677-679
Authors:
TRABETTI E
CUSIN V
MALERBA G
MARTINATI LC
CASARTELLI A
BONER AL
PIGNATTI PF
Citation: E. Trabetti et al., ASSOCIATION OF THE FC-EPSILON-RI-BETA GENE WITH BRONCHIAL HYPERRESPONSIVENESS IN AN ITALIAN POPULATION, Journal of Medical Genetics, 35(8), 1998, pp. 680-681
Authors:
SILAHTAROGLU AN
HACIHANEFIOGLU S
GUVEN GS
CENANI A
WIRTH J
TOMMERUP N
TUMER Z
Citation: An. Silahtaroglu et al., NOT PARA-, NOT PERI-, BUT CENTRIC INVERSION OF CHROMOSOME-12, Journal of Medical Genetics, 35(8), 1998, pp. 682-684
Authors:
LAW CJ
FISHER AM
TEMPLE IK
Citation: Cj. Law et al., DISTAL 6P DELETION SYNDROME - A REPORT OF A CASE WITH ANTERIOR-CHAMBER EYE ANOMALY AND REVIEW OF PUBLISHED REPORTS, Journal of Medical Genetics, 35(8), 1998, pp. 685-689
Authors:
ELCIOGLU N
HALL CM
Citation: N. Elcioglu et Cm. Hall, MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS AND CHONDRODYSPLASIA PUNCTATA IN 2 SIBS - PHENOCOPY OR COINCIDENCE, Journal of Medical Genetics, 35(8), 1998, pp. 690-694
Authors:
AUSTINWARD E
CASTILLO S
CUCHACOVICH M
ESPINOZA A
COFREBECA J
GONZALEZ S
SOLIVELLES X
BLOOMFIELD J
Citation: E. Austinward et al., NEONATAL LUPUS SYNDROME - A CASE WITH CHONDRODYSPLASIA PUNCTATA AND OTHER UNUSUAL MANIFESTATIONS, Journal of Medical Genetics, 35(8), 1998, pp. 695-697
Authors:
TORIELLO HV
Citation: Hv. Toriello, CHONDRODYSPLASIA PUNCTATA AND MATERNAL SYSTEMIC LUPUS-ERYTHEMATOSUS, Journal of Medical Genetics, 35(8), 1998, pp. 698-699
Authors:
CHINNERY PF
TURNBULL DM
HOWELL N
ANDREWS RM
Citation: Pf. Chinnery et al., MITOCHONDRIAL-DNA MUTATIONS AND PATHOGENICITY, Journal of Medical Genetics, 35(8), 1998, pp. 701-702
Authors:
BAIGET M
BARCELO MJ
GIMFERRER E
Citation: M. Baiget et al., FREQUENCY OF THE HFE C282Y AND H63D MUTATIONS IN DISTINCT ETHNIC-GROUPS LIVING IN SPAIN, Journal of Medical Genetics, 35(8), 1998, pp. 701-701
Authors:
FRYNS JP
SMEETS E
Citation: Jp. Fryns et E. Smeets, CATAPLEXY IN COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(8), 1998, pp. 702-702
Authors:
GRAY RGF
HALL SK
Citation: Rgf. Gray et Sk. Hall, AUTOCLAVING GUTHRIE CARDS DOES NOT PREVENT THEIR USE IN PCR REACTIONS, Journal of Medical Genetics, 35(8), 1998, pp. 702-702
Authors:
WACEY AI
TUDDENHAM EGD
Citation: Ai. Wacey et Egd. Tuddenham, MUTATION DATABASES ON THE WEB, Journal of Medical Genetics, 35(7), 1998, pp. 529-533
Authors:
JACOBSEN J
KING BH
LEVENTHAL BL
CHRISTIAN SL
LEDBETTER DH
COOK EH
Citation: J. Jacobsen et al., MOLECULAR SCREENING FOR PROXIMAL 15Q ABNORMALITIES IN A MENTALLY-RETARDED POPULATION, Journal of Medical Genetics, 35(7), 1998, pp. 534-538