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Results: 1-25 | 26-50 | 51-75 | 76-88
Results: 51-75/88
NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - EVIDENCE OF LINKAGE TO BCL3 IN 17 MULTIGENERATIONAL FAMILIES
Authors: STEIN J MULLIKEN JB STAL S GASSER DL MALCOLM S WINTER R BLANTON SH AMOS C SEEMANOVA E HECHT JT
Citation: J. Stein et al., NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - EVIDENCE OF LINKAGE TO BCL3 IN 17 MULTIGENERATIONAL FAMILIES, American journal of human genetics, 57(2), 1995, pp. 257-272
A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME
Authors: MUENKE M SCHELL U HEHR A ROBIN NH LOSKEN HW SCHINZEL A PULLEYN LJ RUTLAND P REARDON W MALCOLM S WINTER RM
Citation: M. Muenke et al., A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME, Nature genetics, 8(3), 1994, pp. 269-274
MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME
Authors: REARDON W WINTER RM RUTLAND P PULLEYN LJ JONES BM MALCOLM S
Citation: W. Reardon et al., MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME, Nature genetics, 8(1), 1994, pp. 98-103
PROTEOLIPID PROTEIN GENE DOSAGE EFFECT IN PELIZAEUS-MERZBACHER DISEASE
Authors: ELLIS D MALCOLM S
Citation: D. Ellis et S. Malcolm, PROTEOLIPID PROTEIN GENE DOSAGE EFFECT IN PELIZAEUS-MERZBACHER DISEASE, Nature genetics, 6(4), 1994, pp. 333-334
MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS
Authors: CAREY N JOHNSON K NOKELAINEN P PELTONEN L SAVONTAUS ML JUVONEN V ANVRET M GRANDELL U CHOTAI K ROBERTSON E MIDDLETONPRICE H MALCOLM S
Citation: N. Carey et al., MEIOTIC DRIVE AT THE MYOTONIC-DYSTROPHY LOCUS, Nature genetics, 6(2), 1994, pp. 117-118
LOCALIZATION OF THE GENETIC-LOCUS FOR SAETHRE-CHOTZEN-SYNDROME TO A 6CM REGION OF CHROMOSOME-7 USING 4 CASES WITH APPARENTLY BALANCED TRANSLOCATIONS AT 7P21.2
Authors: ROSE CSP KING AAJ SUMMERS D PALMER R YANG S WILKIE AOM REARDON W MALCOLM S WINTER RM
Citation: Csp. Rose et al., LOCALIZATION OF THE GENETIC-LOCUS FOR SAETHRE-CHOTZEN-SYNDROME TO A 6CM REGION OF CHROMOSOME-7 USING 4 CASES WITH APPARENTLY BALANCED TRANSLOCATIONS AT 7P21.2, Human molecular genetics, 3(8), 1994, pp. 1405-1408
ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB
Authors: BUXTON JL CHAN CTJ GILBERT H CLAYTONSMITH J BURN J PEMBREY M MALCOLM S
Citation: Jl. Buxton et al., ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB, Human molecular genetics, 3(8), 1994, pp. 1409-1413
X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS
Authors: HUBER I BITNERGLINDZICZ M DEKOK YJM VANDERMAAREL SM ISHIKAWABRUSH Y MONACO AP ROBINSON D MALCOLM S PEMBREY M BRUNNER HG CREMERS FPM ROPERS HH
Citation: I. Huber et al., X-LINKED MIXED DEAFNESS (DFN3) - CLONING AND CHARACTERIZATION OF THE CRITICAL REGION ALLOWS THE IDENTIFICATION OF NOVEL MICRODELETIONS, Human molecular genetics, 3(7), 1994, pp. 1151-1154
DETECTION OF 8 NEW MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FABRY-DISEASE
Authors: DAVIES J CHRISTOMANOU H WINCHESTER B MALCOLM S
Citation: J. Davies et al., DETECTION OF 8 NEW MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FABRY-DISEASE, Human molecular genetics, 3(4), 1994, pp. 667-669
HUMAN CD40L GENE MAPS BETWEEN DXS144E AND DXS300 IN XQ26
Authors: PILIA G PORTA G PADAYACHEE M MALCOLM S ZUCCHI I VILLA A MACCHI P VEZZONI P SCHLESSINGER D
Citation: G. Pilia et al., HUMAN CD40L GENE MAPS BETWEEN DXS144E AND DXS300 IN XQ26, Genomics, 22(1), 1994, pp. 249-251
REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-15 MAPPING 1994
Authors: MALCOLM S DONLON TA
Citation: S. Malcolm et Ta. Donlon, REPORT OF THE 2ND INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-15 MAPPING 1994, Cytogenetics and cell genetics, 67(1), 1994, pp. 1-14
DEFINITION OF THE ANGELMAN-SYNDROME CRITICAL REGION ON CHROMOSOME-15Q11-]Q13
Authors: BUXTON JL CHAN CTJ GILBERT HL CLAYTONSMITH J PEMBREY ME MALCOLM S
Citation: Jl. Buxton et al., DEFINITION OF THE ANGELMAN-SYNDROME CRITICAL REGION ON CHROMOSOME-15Q11-]Q13, Cytogenetics and cell genetics, 67(1), 1994, pp. 16-16
MAPPING OF SAETHRE-CHOTZEN SYNDROME (ACSIII) ON 7P
Authors: ROSE CSP VANHERWERDEN L REARDON W BRUETON LA MALCOLM S WINTER RM
Citation: Csp. Rose et al., MAPPING OF SAETHRE-CHOTZEN SYNDROME (ACSIII) ON 7P, Cytogenetics and cell genetics, 65(1-2), 1994, pp. 69-69
NORMATIVE HEMATOLOGIC AND SERUM BIOCHEMICAL VALUES FOR ADULT AND INFANT RHESUS-MONKEYS (MACACA-MULATTA) IN A CONTROLLED LABORATORY ENVIRONMENT
Authors: FERNIE S WRENSHALL E MALCOLM S BRYCE F ARNOLD DL
Citation: S. Fernie et al., NORMATIVE HEMATOLOGIC AND SERUM BIOCHEMICAL VALUES FOR ADULT AND INFANT RHESUS-MONKEYS (MACACA-MULATTA) IN A CONTROLLED LABORATORY ENVIRONMENT, Journal of toxicology and environmental health, 42(1), 1994, pp. 53-72
IMMEDIATE FAMILY - MANN,S
Authors: MALCOLM S
Citation: S. Malcolm, IMMEDIATE FAMILY - MANN,S, The New York review of books, 41(3), 1994, pp. 7-8
CROUZON SYNDROME IS NOT LINKED TO CRANIOSYNOSTOSIS LOCI AT 7P AND 5QTER
Authors: REARDON W VANHERWERDEN L ROSE C JONES B MALCOLM S WINTER RM
Citation: W. Reardon et al., CROUZON SYNDROME IS NOT LINKED TO CRANIOSYNOSTOSIS LOCI AT 7P AND 5QTER, Journal of Medical Genetics, 31(3), 1994, pp. 219-221
CLOSE LINKAGE OF A GENE FOR X-LINKED DEAFNESS TO 3 MICROSATELLITE REPEATS AT XQ21 IN RADIOLOGICALLY NORMAL AND ABNORMAL FAMILIES
Authors: BITNERGLINDZICZ M DEKOK Y SUMMERS D HUBER I CREMERS FPM ROPERS HH REARDON W PEMBREY ME MALCOLM S
Citation: M. Bitnerglindzicz et al., CLOSE LINKAGE OF A GENE FOR X-LINKED DEAFNESS TO 3 MICROSATELLITE REPEATS AT XQ21 IN RADIOLOGICALLY NORMAL AND ABNORMAL FAMILIES, Journal of Medical Genetics, 31(12), 1994, pp. 916-921
EVIDENCE, FROM FAMILY STUDIES, FOR LINKAGE DISEQUILIBRIUM BETWEEN TGFA AND A GENE FOR NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE
Authors: FENG HS SASSANI R BARTLETT SP LEE A HECHT JT MALCOLM S WINTER RM VINTINER GM BUETOW KH GASSER DL
Citation: Hs. Feng et al., EVIDENCE, FROM FAMILY STUDIES, FOR LINKAGE DISEQUILIBRIUM BETWEEN TGFA AND A GENE FOR NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE, American journal of human genetics, 55(5), 1994, pp. 932-936
EVIDENCE FOR LOCUS HETEROGENEITY IN ACROCEPHALOSYNDACTYLY - A REFINEDLOCALIZATION FOR THE SAETHRE-CHOTZEN SYNDROME LOCUS ON DISTAL CHROMOSOME 7P - AND EXCLUSION OF JACKSON-WEISS SYNDROME FROM CRANIOSYNOSTOSISLOCI ON 7P AND 5Q
Authors: VANHERWERDEN L ROSE CSP REARDON W BRUETON LA WEISSENBACH J MALCOLM S WINTER RM
Citation: L. Vanherwerden et al., EVIDENCE FOR LOCUS HETEROGENEITY IN ACROCEPHALOSYNDACTYLY - A REFINEDLOCALIZATION FOR THE SAETHRE-CHOTZEN SYNDROME LOCUS ON DISTAL CHROMOSOME 7P - AND EXCLUSION OF JACKSON-WEISS SYNDROME FROM CRANIOSYNOSTOSISLOCI ON 7P AND 5Q, American journal of human genetics, 54(4), 1994, pp. 669-674
MUTATION ANALYSIS IN PATIENTS WITH THE TYPICAL FORM OF ANDERSON-FABRYDISEASE
Authors: DAVIES JP WINCHESTER BG MALCOLM S
Citation: Jp. Davies et al., MUTATION ANALYSIS IN PATIENTS WITH THE TYPICAL FORM OF ANDERSON-FABRYDISEASE, Human molecular genetics, 2(7), 1993, pp. 1051-1053
AN 8-BP DELETION IN EXON-B OF THE IDURONATE-2-SULFATE SULFATASE GENE IN A CASE OF HUNTER DISEASE
Authors: GOLDENFUM S MALCOLM S WINCHESTER B
Citation: S. Goldenfum et al., AN 8-BP DELETION IN EXON-B OF THE IDURONATE-2-SULFATE SULFATASE GENE IN A CASE OF HUNTER DISEASE, Human molecular genetics, 2(7), 1993, pp. 1063-1065
A G TO T MUTATION AT A SPLICE-SITE IN A CASE OF PELIZAEUS-MERZBACHER DISEASE
Authors: STRAUTNIEKS S MALCOLM S
Citation: S. Strautnieks et S. Malcolm, A G TO T MUTATION AT A SPLICE-SITE IN A CASE OF PELIZAEUS-MERZBACHER DISEASE, Human molecular genetics, 2(12), 1993, pp. 2191-2192
NOVEL MUTATION AFFECTING A SPLICE-SITE IN EXON-4 OF THE ORNITHINE CARBAMOYL TRANSFERASE GENE
Authors: STRAUTNIEKS S MALCOLM S
Citation: S. Strautnieks et S. Malcolm, NOVEL MUTATION AFFECTING A SPLICE-SITE IN EXON-4 OF THE ORNITHINE CARBAMOYL TRANSFERASE GENE, Human molecular genetics, 2(11), 1993, pp. 1963-1964
COEXISTENCE OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-IA AND IGM PARAPROTEINEMIC NEUROPATHY
Authors: GREGORY R THOMAS PK KING RHM HALLAM PLJ MALCOLM S HUGHES RAC HARDING AE
Citation: R. Gregory et al., COEXISTENCE OF HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE-IA AND IGM PARAPROTEINEMIC NEUROPATHY, Annals of neurology, 33(6), 1993, pp. 649-652
ISOLATION AND MAPPING OF DISCRETE DXS101 LOCI IN XQ22 NEAR THE X-LINKED AGAMMAGLOBULINEMIA GENE LOCUS
Authors: OREILLY MAJ SWEATMAN AK BRADLEY LD ALTERMAN LA LOVERING R MALCOLM S LEVINSKY RJ KINNON C
Citation: Maj. Oreilly et al., ISOLATION AND MAPPING OF DISCRETE DXS101 LOCI IN XQ22 NEAR THE X-LINKED AGAMMAGLOBULINEMIA GENE LOCUS, Human genetics, 91(6), 1993, pp. 605-608
Risultati: 1-25 | 26-50 | 51-75 | 76-88