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Results: 101-125/1909
Authors:
PAPAIOANNOU M
BESSANT D
PAYNE A
BELLINGHAM J
ROUGAS C
LOUTRADISANAGNOSTOU A
GREGORYEVANS C
BALASSOPOULOU A
BHATTACHARYA S
Citation: M. Papaioannou et al., A NEW FAMILY OF GREEK ORIGIN MAPS TO THE CRD LOCUS FOR AUTOSOMAL-DOMINANT CONE-ROD DYSTROPHY ON 19Q, Journal of Medical Genetics, 35(5), 1998, pp. 429-431
Authors:
MCDERMOTT MF
MCDERMOTT EM
QUANE KA
JONES LC
OGUNKOLADE BW
CURTIS D
WALDRONLYNCH F
PHELAN M
HITMAN GA
MOLLOY MG
POWELL RJ
Citation: Mf. Mcdermott et al., EXCLUSION OF THE FAMILIAL MEDITERRANEAN FEVER LOCUS AS A SUSCEPTIBILITY REGION FOR AUTOSOMAL-DOMINANT FAMILIAL HIBERNIAN FEVER, Journal of Medical Genetics, 35(5), 1998, pp. 432-434
Authors:
PALLOTTA R
FUSILLI P
Citation: R. Pallotta et P. Fusilli, UNKNOWN SYNDROME - PECULIAR FACE, SEVERE HYPODONTIA OF PERMANENT TEETH, AND PRECOCIOUS CHOROID CALCIFICATIONS, Journal of Medical Genetics, 35(5), 1998, pp. 435-437
Authors:
ENGELEN JJM
ALBRECHTS JCM
HAMERS GJH
GERAEDTS JPM
Citation: Jjm. Engelen et al., A SIMPLE AND EFFICIENT METHOD FOR MICRODISSECTION AND MICROFISH, Journal of Medical Genetics, 35(4), 1998, pp. 265-268
Authors:
FENSKE CD
JEFFERY S
WEBER JL
HOULSTON RS
LEONARD JV
LEE PJ
Citation: Cd. Fenske et al., LOCALIZATION OF THE GENE FOR GLYCOGEN-STORAGE-DISEASE TYPE 1C BY HOMOZYGOSITY MAPPING TO 11Q, Journal of Medical Genetics, 35(4), 1998, pp. 269-272
Authors:
JONSSON JJ
RENIERI A
GALLAGHER PG
KASHTAN CE
CHERNISKE EM
BRUTTINI M
PICCINI M
VITELLI F
BALLABIO A
POBER BR
Citation: Jj. Jonsson et al., ALPORT SYNDROME, MENTAL-RETARDATION, MIDFACE HYPOPLASIA, AND ELLIPTOCYTOSIS - A NEW X-LINKED CONTIGUOUS GENE DELETION SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 273-278
Authors:
ALAMELLO S
SANKILA EM
KOSKIMIES O
DELACHAPELLE A
KAARIAINEN H
Citation: S. Alamello et al., MOLECULAR STUDIES IN FINNISH PATIENTS WITH FAMILIAL JUVENILE NEPHRONOPHTHISIS EXCLUDE A FOUNDER EFFECT AND SUPPORT A COMMON MUTATION CAUSING MECHANISM, Journal of Medical Genetics, 35(4), 1998, pp. 279-283
Authors:
MARTINEZ F
TOMAS M
MILLAN JM
FERNANDEZ A
PALAU F
PRIETO F
Citation: F. Martinez et al., GENETIC LOCALIZATION OF MENTAL-RETARDATION WITH SPASTIC DIPLEGIA TO THE PERICENTROMERIC REGION OF THE X-CHROMOSOME - X-INACTIVATION IN FEMALE CARRIERS, Journal of Medical Genetics, 35(4), 1998, pp. 284-287
Authors:
BONTHRON DT
DUNLOP N
BARR DGD
ELSANOUSI AA
ALGAZALI LI
Citation: Dt. Bonthron et al., ORGANIZATION OF THE HUMAN PAX4 GENE AND ITS EXCLUSION AS A CANDIDATE FOR THE WOLCOTT-RALLISON-SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 288-292
Authors:
BAUMANN P
MYLLYLA VV
LEISTI J
Citation: P. Baumann et al., MYOTONIA-CONGENITA IN NORTHERN FINLAND - AN EPIDEMIOLOGIC AND GENETIC-STUDY, Journal of Medical Genetics, 35(4), 1998, pp. 293-296
Authors:
XIANG FQ
ZHANG ZP
CLARKE A
JOSELUIZ P
SAKKUBAI N
SAROJINI B
DELOZIERBLANCHET CD
HANSMANN I
EDSTROM L
ANVRET M
Citation: Fq. Xiang et al., CHROMOSOME MAPPING OF RETT-SYNDROME - A LIKELY CANDIDATE REGION ON THE TELOMERE OF XQ, Journal of Medical Genetics, 35(4), 1998, pp. 297-300
Authors:
RIVERA I
LEANDRO P
LICHTERKONECKI U
DEALMEIDA IT
LECHNER MC
Citation: I. Rivera et al., POPULATION-GENETICS OF HYPERPHENYLALANINEMIA RESULTING FROM PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PORTUGAL, Journal of Medical Genetics, 35(4), 1998, pp. 301-304
Authors:
SPEER MC
GILCHRIST JM
STAJICH JM
GASKELL PC
WESTBROOK CA
HORRIGAN SK
BARTOLONI L
YAMAOKA LH
SCOTT WK
PERICAKVANCE MA
Citation: Mc. Speer et al., EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(4), 1998, pp. 305-308
Authors:
HUGHES HE
ALDERMAN JK
KRAWCZAK M
ROGERS C
Citation: He. Hughes et al., CONTRACTING FOR CLINICAL GENETIC SERVICES - THE WELSH MODEL, Journal of Medical Genetics, 35(4), 1998, pp. 309-313
Authors:
JARMAN PR
WARNER TT
Citation: Pr. Jarman et Tt. Warner, THE DYSTONIAS, Journal of Medical Genetics, 35(4), 1998, pp. 314-318
Authors:
GLASS IA
STORMER P
OEI PTSP
HACKING E
COTTER PD
Citation: Ia. Glass et al., TRISOMY 2Q11.2-]Q21.1 RESULTING FROM AN UNBALANCED INSERTION IN 2 GENERATIONS, Journal of Medical Genetics, 35(4), 1998, pp. 319-322
Authors:
VANASPEREN CJ
OVERWEGPLANDSOEN WCG
CNOSSEN MH
VANTIJN DA
HENNEKAM RCM
Citation: Cj. Vanasperen et al., FAMILIAL NEUROFIBROMATOSIS TYPE-1 ASSOCIATED WITH AN OVERGROWTH SYNDROME RESEMBLING WEAVER-SYNDROME, Journal of Medical Genetics, 35(4), 1998, pp. 323-327
Authors:
PIVNICK EK
FURMAN WL
VELAGALETI GVN
JENKINS JJ
CHASE NA
RIBEIRO RC
Citation: Ek. Pivnick et al., SIMULTANEOUS ADRENOCORTICAL CARCINOMA AND GANGLIONEUROBLASTOMA IN A CHILD WITH TURNER-SYNDROME AND GERMLINE P53 MUTATION, Journal of Medical Genetics, 35(4), 1998, pp. 328-332
Authors:
FRYNS JP
VANLINGEN C
DEVRIENDT K
LEGIUS E
RAUS P
Citation: Jp. Fryns et al., 2 ADULT FEMALES WITH A DISTINCT FAMILIAL MENTAL-RETARDATION SYNDROME - NONPROGRESSIVE NEUROLOGICAL SYMPTOMS WITH ATAXIA AND HYPOTONIA, SIMILAR FACIAL APPEARANCE, HYPERGONADOTROPIC HYPOGONADISM, AND RETINAL DYSTROPHY, Journal of Medical Genetics, 35(4), 1998, pp. 333-335
Authors:
PORTEOUS MEM
STRAIN L
LOGIE LJ
HERD RM
BENTON EC
Citation: Mem. Porteous et al., KERATOSIS-FOLLICULARIS SPINULOSA DECALVANS - CONFIRMATION OF LINKAGE TO XP22.13-P22.2, Journal of Medical Genetics, 35(4), 1998, pp. 336-337
Authors:
CHOI KL
MCNOE LA
FRENCH MC
GUILFORD PJ
ECCLES MR
Citation: Kl. Choi et al., ABSENCE OF PAX2 GENE-MUTATIONS IN PATIENTS WITH PRIMARY FAMILIAL VESICOURETERAL REFLUX, Journal of Medical Genetics, 35(4), 1998, pp. 338-339
Authors:
MULLER J
GONDOS B
KOSUGI S
MORI T
SHENKER A
Citation: J. Muller et al., SEVERE TESTOTOXICOSIS PHENOTYPE ASSOCIATED WITH ASP(578)-]TYR MUTATION OF THE LUTROPHIN CHORIOGONADOTROPHIN RECEPTOR GENE/, Journal of Medical Genetics, 35(4), 1998, pp. 340-341
Authors:
NAGAI K
NAGAO M
NAGAO M
YANAI S
MINAGAWA K
TAKAHASHI Y
TAKEKOSHI Y
ISHIZAKA A
MATSUZONO Y
KOBAYASHI O
ITAGAKI T
Citation: K. Nagai et al., ORAL-FACIAL-DIGITAL SYNDROME TYPE-IX IN A PATIENT WITH DANDY-WALKER MALFORMATION, Journal of Medical Genetics, 35(4), 1998, pp. 342-344
Authors:
DIROCCO M
BUOCOMPAGNI A
PICCO P
VIGNOLA S
BORRONE C
GIMELLI G
Citation: M. Dirocco et al., SPECTRUM OF CLINICAL FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS, Journal of Medical Genetics, 35(4), 1998, pp. 346-346
Authors:
HUNTER A
Citation: A. Hunter, CLINICAL-FEATURES OF CHROMOSOME 22Q11 DELETION, Journal of Medical Genetics, 35(4), 1998, pp. 346-346