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Results: 1-25 | 26-50 | 51-75 | 76-88
Results: 26-50/88
SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS
Authors: PULLEYN LJ REARDON W WILKES D RUTLAND P JONES BM HAYWARD R HALL CM BRUETON L CHUN N LAMMER E MALCOLM S WINTER RM
Citation: Lj. Pulleyn et al., SPECTRUM OF CRANIOSYNOSTOSIS PHENOTYPES ASSOCIATED WITH NOVEL MUTATIONS AT THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 LOCUS, European journal of human genetics, 4(5), 1996, pp. 283-291
FABRY-DISEASE - 14 ALPHA-GALACTOSIDASE-A MUTATIONS IN UNRELATED FAMILIES FROM THE UNITED-KINGDOM AND OTHER EUROPEAN COUNTRIES
Authors: DAVIES JP ENG CM HILL JA MALCOLM S MACDERMOT K WINCHESTER B DESNICK RJ
Citation: Jp. Davies et al., FABRY-DISEASE - 14 ALPHA-GALACTOSIDASE-A MUTATIONS IN UNRELATED FAMILIES FROM THE UNITED-KINGDOM AND OTHER EUROPEAN COUNTRIES, European journal of human genetics, 4(4), 1996, pp. 219-224
MAPPING OF DFN2 TO XQ22
Authors: TYSON J BELLMAN S NEWTON V SIMPSON P MALCOLM S PEMBREY ME BITNERGLINDZICZ M
Citation: J. Tyson et al., MAPPING OF DFN2 TO XQ22, Human molecular genetics, 5(12), 1996, pp. 2055-2060
DELETIONS OF CHROMOSOME 17P11.2 IN MULTIFOCAL NEUROPATHIES
Authors: TYSON J MALCOLM S THOMAS PK HARDING AE
Citation: J. Tyson et al., DELETIONS OF CHROMOSOME 17P11.2 IN MULTIFOCAL NEUROPATHIES, Annals of neurology, 39(2), 1996, pp. 180-186
MICRODELETION AND MICRODUPLICATION SYNDROMES
Authors: MALCOLM S
Citation: S. Malcolm, MICRODELETION AND MICRODUPLICATION SYNDROMES, Prenatal diagnosis, 16(13), 1996, pp. 1213-1219
MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS
Authors: SAITOH S BUITING K ROGAN PK BUXTON JL DRISCOLL DJ ARNEMANN J KONIG R MALCOLM S HORSTHEMKE B NICHOLLS RD
Citation: S. Saitoh et al., MINIMAL DEFINITION OF THE IMPRINTING CENTER AND FIXATION OF A CHROMOSOME 15Q11-Q13 EPIGENOTYPE BY IMPRINTING MUTATIONS, Proceedings of the National Academy of Sciences of the United Statesof America, 93(15), 1996, pp. 7811-7815
A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS
Authors: WILKES D RUTLAND P PULLEYN LJ REARDON W MOSS C ELLIS JP WINTER RM MALCOLM S
Citation: D. Wilkes et al., A RECURRENT MUTATION, ALA391GLU, IN THE TRANSMEMBRANE REGION OF FGFR3CAUSES CROUZON SYNDROME AND ACANTHOSIS NIGRICANS, Journal of Medical Genetics, 33(9), 1996, pp. 744-748
EFFECTS OF PEROXYNITRITE-INDUCED PROTEIN MODIFICATIONS ON TYROSINE PHOSPHORYLATION AND DEGRADATION
Authors: GOW AJ DURAN D MALCOLM S ISCHIROPOULOS H
Citation: Aj. Gow et al., EFFECTS OF PEROXYNITRITE-INDUCED PROTEIN MODIFICATIONS ON TYROSINE PHOSPHORYLATION AND DEGRADATION, FEBS letters, 385(1-2), 1996, pp. 63-66
NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - ERRATUM
Authors: AMOS C STEIN J MULLIKEN JB STAL S MALCOLM S WINTER R BLANTON SH SEEMANOVA E GASSER DL HECHT JT
Citation: C. Amos et al., NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE - ERRATUM, American journal of human genetics, 59(3), 1996, pp. 744-744
EXCLUSION OF LINKAGE BETWEEN CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE AND MARKERS ON CHROMOSOME-4 AND CHROMOSOME-6
Authors: BLANTON SH CROWDER E MALCOLM S WINTER R GASSER DL STAL S MULLIKEN J HECHT JT
Citation: Sh. Blanton et al., EXCLUSION OF LINKAGE BETWEEN CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE AND MARKERS ON CHROMOSOME-4 AND CHROMOSOME-6, American journal of human genetics, 58(1), 1996, pp. 239-241
APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME
Authors: WILKIE AOM SLANEY SF OLDRIDGE M POOLE MD ASHWORTH GJ HOCKLEY AD HAYWARD RD DAVID DJ PULLEYN LJ RUTLAND P MALCOLM S WINTER RM REARDON W
Citation: Aom. Wilkie et al., APERT SYNDROME RESULTS FROM LOCALIZED MUTATIONS OF FGFR2 AND IS ALLELIC WITH CROUZON SYNDROME, Nature genetics, 9(2), 1995, pp. 165-172
IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES
Authors: RUTLAND P PULLEYN LJ REARDON W BARAITSER M HAYWARD R JONES B MALCOLM S WINTER RM OLDRIDGE M SLANEY SF POOLE MD WILKIE AOM
Citation: P. Rutland et al., IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZONSYNDROME PHENOTYPES, Nature genetics, 9(2), 1995, pp. 173-176
MEIOTIC DRIVE AND MYOTONIC-DYSTROPHY - REPLY
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 AND MYOTONIC-DYSTROPHY - REPLY, Nature genetics, 10(2), 1995, pp. 133-133
MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME
Authors: OLDRIDGE M WILKIE AOM SLANEY SF POOLE MD PULLEYN LJ RUTLAND P HOCKLEY AD WAKE MJC GOLDIN JH WINTER RM REARDON W MALCOLM S
Citation: M. Oldridge et al., MUTATIONS IN THE 3RD IMMUNOGLOBULIN DOMAIN OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE IN CROUZON SYNDROME, Human molecular genetics, 4(6), 1995, pp. 1077-1082
A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE
Authors: DEKOK YJM MERKX GFM VANDERMAAREL SM HUBER I MALCOLM S ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., A DUPLICATION PARACENTRIC INVERSION ASSOCIATED WITH FAMILIAL X-LINKEDDEAFNESS (DFN3) SUGGESTS THE PRESENCE OF A REGULATORY ELEMENT MORE THAN 400 KB UPSTREAM OF THE POU3F4 GENE, Human molecular genetics, 4(11), 1995, pp. 2145-2150
HUMAN MINISATELLITE LOCI COMPOSED OF INTERSPERSED GGA-GGT TRIPLET REPEATS
Authors: ARMOUR JAL CROSIER M MALCOLM S CHAN JCT JEFFREYS AJ
Citation: Jal. Armour et al., HUMAN MINISATELLITE LOCI COMPOSED OF INTERSPERSED GGA-GGT TRIPLET REPEATS, Proceedings - Royal Society. Biological Sciences, 261(1362), 1995, pp. 345-349
CONTAMINATED FOODS IN HEALTH-CARE FACILITIES
Authors: BROOKS S MALCOLM S LAMONT P KHAN A MADAHAR B HAMEED R
Citation: S. Brooks et al., CONTAMINATED FOODS IN HEALTH-CARE FACILITIES, Infection control and hospital epidemiology, 16(12), 1995, pp. 675-675
A CASE OF PELIZAEUS-MERZBACHER DISEASE SHOWING INCREASED DOSAGE OF THE PROTEOLIPID PROTEIN GENE
Authors: HARDING B ELLIS D MALCOLM S
Citation: B. Harding et al., A CASE OF PELIZAEUS-MERZBACHER DISEASE SHOWING INCREASED DOSAGE OF THE PROTEOLIPID PROTEIN GENE, Neuropathology and applied neurobiology, 21(2), 1995, pp. 111-115
THE LOCALIZATION OF THE GENETIC-LOCUS OF THE SAETHRE-CHOTZEN SYNDROME
Authors: ROSE CSP KING AAJ YANG S WILKIE AOM REARDON W MALCOLM S WINTER RM
Citation: Csp. Rose et al., THE LOCALIZATION OF THE GENETIC-LOCUS OF THE SAETHRE-CHOTZEN SYNDROME, Cytogenetics and cell genetics, 71(1), 1995, pp. 27-27
TOXICOLOGICAL CONSEQUENCES OF AROCLOR-1254 INGESTION BY FEMALE RHESUS(MACACA-MULATTA) MONKEYS .2. REPRODUCTION AND INFANT FINDINGS
Authors: ARNOLD DL BRYCE F MCGUIRE PF STAPLEY R TANNER JR WRENSHALL E MES J FERNIE S TRYPHONAS H HAYWARD S MALCOLM S
Citation: Dl. Arnold et al., TOXICOLOGICAL CONSEQUENCES OF AROCLOR-1254 INGESTION BY FEMALE RHESUS(MACACA-MULATTA) MONKEYS .2. REPRODUCTION AND INFANT FINDINGS, Food and chemical toxicology, 33(6), 1995, pp. 457-474
INVESTIGATION OF THE EFFECT OF COFFEE LIPIDS ON SERUM-CHOLESTEROL IN HAMSTERS
Authors: RATNAYAKE WMN PELLETIER G HOLLYWOOD R MALCOLM S STAVRIC B
Citation: Wmn. Ratnayake et al., INVESTIGATION OF THE EFFECT OF COFFEE LIPIDS ON SERUM-CHOLESTEROL IN HAMSTERS, Food and chemical toxicology, 33(3), 1995, pp. 195-201
PROPORTIONS OF SPONTANEOUS MUTATIONS IN MALES AND FEMALES WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY
Authors: TUCHMAN M MATSUDA I MUNNICH A MALCOLM S STRAUTNIEKS S BRIEDE T
Citation: M. Tuchman et al., PROPORTIONS OF SPONTANEOUS MUTATIONS IN MALES AND FEMALES WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY, American journal of medical genetics, 55(1), 1995, pp. 67-70
ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4
Authors: DEKOK YJM VANDERMAAREL SM BITNERGLINDZICZ M HUBER I MONACO AP MALCOLM S PEMBREY ME ROPERS HH CREMERS FPM
Citation: Yjm. Dekok et al., ASSOCIATION BETWEEN X-LINKED MIXED DEAFNESS AND MUTATIONS IN THE POU DOMAIN GENE POU3F4, Science, 267(5198), 1995, pp. 685-688
BCL3 IS LINKED TO NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE
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., BCL3 IS LINKED TO NONSYNDROMIC CLEFT-LIP WITH OR WITHOUT CLEFT-PALATE, American journal of human genetics, 57(4), 1995, pp. 183-183
MISSENSE MUTATIONS OF THE PMP-22 END PO GENES IN HEREDITARY MOTOR ENDSENSORY NEUROPATHY
Authors: TYSON J ELLIS D THOMAS PK HARDING AE MALCOLM S
Citation: J. Tyson et al., MISSENSE MUTATIONS OF THE PMP-22 END PO GENES IN HEREDITARY MOTOR ENDSENSORY NEUROPATHY, American journal of human genetics, 57(4), 1995, pp. 1467-1467
Risultati: 1-25 | 26-50 | 51-75 | 76-88