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Results: 1-25 |
Results: 25
A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS (HSAS)
Authors: DU YZ DICKERSON C AYLSWORTH AS SCHWARTZ CE
Citation: Yz. Du et al., A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS (HSAS), Journal of Medical Genetics, 35(6), 1998, pp. 456-462
X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3
Authors: GEBBIA M FERRERO GB PILIA G BASSI MT AYLSWORTH AS PENMANSPLITT M BIRD LM BAMFORTH JS BURN J SCHLESSINGER D NELSON DL CASEY B
Citation: M. Gebbia et al., X-LINKED SITUS ABNORMALITIES RESULT FROM MUTATIONS IN ZIC3, Nature genetics, 17(3), 1997, pp. 305-308
MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION,HYPOSPADIAS, AND OLIGOHYDRAMNIOS
Authors: HANSEN WF BERNARD LE LANGLOIS S RAO KW CHESCHEIR NC AYLSWORTH AS SMITH DI ROBINSON WP BARRETT IJ KALOUSEK DK
Citation: Wf. Hansen et al., MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-2 AND CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2 IN A FETUS WITH INTRAUTERINE GROWTH RESTRICTION,HYPOSPADIAS, AND OLIGOHYDRAMNIOS, Prenatal diagnosis, 17(5), 1997, pp. 443-450
MUTATIONS INVOLVING THE TRANSCRIPTION FACTOR CBFA1 CAUSE CLEIDOCRANIAL DYSPLASIA
Authors: MUNDLOS S OTTO F MUNDLOS C MULLIKEN JB AYLSWORTH AS ALBRIGHT S LINDHOUT D COLE WG HENN W KNOLL JHM OWEN MJ MERTELSMANN R ZABEL BU OLSEN BR
Citation: S. Mundlos et al., MUTATIONS INVOLVING THE TRANSCRIPTION FACTOR CBFA1 CAUSE CLEIDOCRANIAL DYSPLASIA, Cell, 89(5), 1997, pp. 773-779
PRENATAL EXPOSURE TO DISULFIRAM IMPLICATED IN THE CAUSE OF MALFORMATIONS IN DISCORDANT MONOZYGOTIC TWINS
Authors: REITNAUER PJ CALLANAN NP FARBER RA AYLSWORTH AS
Citation: Pj. Reitnauer et al., PRENATAL EXPOSURE TO DISULFIRAM IMPLICATED IN THE CAUSE OF MALFORMATIONS IN DISCORDANT MONOZYGOTIC TWINS, Teratology, 56(6), 1997, pp. 358-362
SITES INVERSUS, HEART-DEFECTS, AND OTHER MANIFESTATIONS OF X-LINKED HETEROTAXY CAUSED BY MUTATIONS IN THE ZINC-FINGER TRANSCRIPTION FACTOR ZIC3
Authors: CASEY B GEBBIA M FERRERO GB PILIA G YAMADA M AYLSWORTH AS PENMANSPLITT M BIRD LM BAMFORTH JS BURN J SCHLESSINGER D NELSON DL
Citation: B. Casey et al., SITES INVERSUS, HEART-DEFECTS, AND OTHER MANIFESTATIONS OF X-LINKED HETEROTAXY CAUSED BY MUTATIONS IN THE ZINC-FINGER TRANSCRIPTION FACTOR ZIC3, American journal of human genetics, 61(4), 1997, pp. 90-90
A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS
Authors: DU YZ DICKERSON C AYLSWORTH AS SCHWARTZ CB
Citation: Yz. Du et al., A SILENT MUTATION, C924T (G308G), IN THE L1CAM GENE RESULTS IN X-LINKED HYDROCEPHALUS, American journal of human genetics, 61(4), 1997, pp. 1938-1938
SIMILARITIES OF EEG AND SEIZURES IN DEL(1Q) AND BENIGN ROLANDIC EPILEPSY
Authors: VAUGHN BV GREENWOOD RS AYLSWORTH AS TENNISON MB
Citation: Bv. Vaughn et al., SIMILARITIES OF EEG AND SEIZURES IN DEL(1Q) AND BENIGN ROLANDIC EPILEPSY, Pediatric neurology, 15(3), 1996, pp. 261-264
A 3 GENERATION FAMILY WITH FEATURES OF LACRIMO-AURICULO-DENTO-DIGITALSYNDROME (LADD) AND SEVERE CHRONIC LUNG-DISEASE
Authors: REITNAUER PJ BLACK HR LEIGH MW AYLSWORTH AS
Citation: Pj. Reitnauer et al., A 3 GENERATION FAMILY WITH FEATURES OF LACRIMO-AURICULO-DENTO-DIGITALSYNDROME (LADD) AND SEVERE CHRONIC LUNG-DISEASE, Pediatric research, 39(4), 1996, pp. 485-485
MULTIPLE CONGENITAL-MALFORMATIONS IN AN INFANT PRENATALLY DIAGNOSED WITH MOSAICISM FOR DUP(1Q) AND DEL(XQ)
Authors: WELLS SR KULLER JA RAO KW AYLSWORTH AS
Citation: Sr. Wells et al., MULTIPLE CONGENITAL-MALFORMATIONS IN AN INFANT PRENATALLY DIAGNOSED WITH MOSAICISM FOR DUP(1Q) AND DEL(XQ), Clinical genetics, 49(4), 1996, pp. 216-219
A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA
Authors: BELLUS GA MCINTOSH I SMITH EA AYLSWORTH AS KAITILA I HORTON WA GREENHAW GA HECHT JT FRANCOMANO CA
Citation: Ga. Bellus et al., A RECURRENT MUTATION IN THE TYROSINE KINASE DOMAIN OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 CAUSES HYPOCHONDROPLASIA, Nature genetics, 10(3), 1995, pp. 357-359
DISTRIBUTION OF 13 TRUNCATING MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE
Authors: HEIM RA KAMMORGAN LNW BINNIE CG CORNS DD CAYOUETTE MC FARBER RA AYLSWORTH AS SILVERMAN LM LUCE MC
Citation: Ra. Heim et al., DISTRIBUTION OF 13 TRUNCATING MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE, Human molecular genetics, 4(6), 1995, pp. 975-981
PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS
Authors: ESTABROOKS LL RAO KW DRISCOLL DA CRANDALL BF DEAN JCS IKONEN E KORF B AYLSWORTH AS
Citation: Ll. Estabrooks et al., PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME 4P16 BASED ON 4P DELETIONS, American journal of medical genetics, 57(4), 1995, pp. 581-586
HYPOCHONDROPLASIA - A 2ND RECURRENT MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (EGFR3) AT NUCLEOTIDE 1620
Authors: BELLUS GA SZABO JK MCINTOSH I KAITILA I AYLSWORTH AS HECHT JT FRANCOMANO CA
Citation: Ga. Bellus et al., HYPOCHONDROPLASIA - A 2ND RECURRENT MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 (EGFR3) AT NUCLEOTIDE 1620, American journal of human genetics, 57(4), 1995, pp. 240-240
CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2 WITH FETAL MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME
Authors: BERNARD LE KALOUSEK DK LANGLOIS S BARRETT IJ HANSEN WF AYLSWORTH AS SMITH DI RAO KW
Citation: Le. Bernard et al., CONFINED PLACENTAL MOSAICISM FOR TRISOMY-2 WITH FETAL MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME, American journal of human genetics, 57(4), 1995, pp. 261-261
A SUBTLE FAMILIAL TRANSLOCATION-11-22 ASSOCIATED WITH MACROCEPHALY INBALANCED CARRIERS
Authors: REITNAUER PJ ALBRIGHT SG AYLSWORTH AS POWELL CM KAISERROGERS KA RAO KW
Citation: Pj. Reitnauer et al., A SUBTLE FAMILIAL TRANSLOCATION-11-22 ASSOCIATED WITH MACROCEPHALY INBALANCED CARRIERS, American journal of human genetics, 57(4), 1995, pp. 695-695
NEUROFIBROMATOSIS-1 (NF1) TRUNCATING MUTATIONS ARE DISPERSED THROUGHOUT THE NF1 GENE
Authors: HEIM RA KAMMORGAN LNW BINNIE CG CORNS DD CAYOUETTE MC FARBER RA AYLSWORTH AS SILVERMAN LM LUCE MC
Citation: Ra. Heim et al., NEUROFIBROMATOSIS-1 (NF1) TRUNCATING MUTATIONS ARE DISPERSED THROUGHOUT THE NF1 GENE, American journal of human genetics, 57(4), 1995, pp. 1233-1233
LINKAGE AND HETEROGENEITY IN HEREDITARY SPASTIC PARAPARESIS
Authors: LENNON F GASKELL PC WOLPERT C AYLSWORTH AS MALIN D WARNER C FARRELL CD BOUSTANY RN ALBRIGHT SG KINGSTON HM CUMMINGS WJK HOGAN EL VANCE JM PERICAKVANCE MA
Citation: F. Lennon et al., LINKAGE AND HETEROGENEITY IN HEREDITARY SPASTIC PARAPARESIS, American journal of human genetics, 57(4), 1995, pp. 1255-1255
FRAGILE-X PHENOTYPE IN A PATIENT WITH A LARGE DE-NOVO DELETION IN XQ27-Q28
Authors: ALBRIGHT SG LACHIEWICZ AM TARLETON JC RAO KW SCHWARTZ CE RICHIE R TENNISON MB AYLSWORTH AS
Citation: Sg. Albright et al., FRAGILE-X PHENOTYPE IN A PATIENT WITH A LARGE DE-NOVO DELETION IN XQ27-Q28, American journal of medical genetics, 51(4), 1994, pp. 294-297
MOLECULAR CHARACTERIZATION OF CHROMOSOME 4P DELETIONS RESULTING IN WOLF-HIRSCHHORN SYNDROME
Authors: ESTABROOKS LL LAMB AN AYLSWORTH AS CALLANAN NP RAO KW
Citation: Ll. Estabrooks et al., MOLECULAR CHARACTERIZATION OF CHROMOSOME 4P DELETIONS RESULTING IN WOLF-HIRSCHHORN SYNDROME, Journal of Medical Genetics, 31(2), 1994, pp. 103-107
AN EXTENSIVE DE-NOVO DELETION REMOVING FMR1 IN A PATIENT WITH MENTAL-RETARDATION AND THE FRAGILE X-SYNDROME PHENOTYPE
Authors: TARLETON J RICHIE R SCHWARTZ C RAO K AYLSWORTH AS LACHIEWICZ A
Citation: J. Tarleton et al., AN EXTENSIVE DE-NOVO DELETION REMOVING FMR1 IN A PATIENT WITH MENTAL-RETARDATION AND THE FRAGILE X-SYNDROME PHENOTYPE, Human molecular genetics, 2(11), 1993, pp. 1973-1974
CONE ROD RETINAL DYSTROPHY IN A PATIENT WITH NEUROFIBROMATOSIS TYPE-1
Authors: KYLSTRA JA AYLSWORTH AS
Citation: Ja. Kylstra et As. Aylsworth, CONE ROD RETINAL DYSTROPHY IN A PATIENT WITH NEUROFIBROMATOSIS TYPE-1, Canadian journal of ophthalmology, 28(2), 1993, pp. 79-80
AN INHERITED CRYPTIC TRANSLOCATION BETWEEN CHROMOSOME-13 AND CHROMOSOME-15, DETECTED BY FISH IN A CHILD WITH ANGELMAN SYNDROME
Authors: TEPPERBERG JH TENNISON MB KAISERROGERS K ALBRIGHT SG AYLSWORTH AS RAO KW
Citation: Jh. Tepperberg et al., AN INHERITED CRYPTIC TRANSLOCATION BETWEEN CHROMOSOME-13 AND CHROMOSOME-15, DETECTED BY FISH IN A CHILD WITH ANGELMAN SYNDROME, American journal of human genetics, 53(3), 1993, pp. 609-609
TESTING OF PARTNERS AND GENETIC-COUNSELING FOR CF CARRIERS IDENTIFIEDIN A KINSHIP BASED SCREENING-PROGRAM
Authors: CALLANAN NP SORENSON JR CHEUVRONT B TALTON SL DEVELLIS BM AYLSWORTH AS
Citation: Np. Callanan et al., TESTING OF PARTNERS AND GENETIC-COUNSELING FOR CF CARRIERS IDENTIFIEDIN A KINSHIP BASED SCREENING-PROGRAM, American journal of human genetics, 53(3), 1993, pp. 749-749
A PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME-4P16
Authors: ESTABROOKS LL RAO KW DRISCOLL DA IKONEN E KORF B CRANDALL BF AYLSWORTH AS
Citation: Ll. Estabrooks et al., A PRELIMINARY PHENOTYPIC MAP OF CHROMOSOME-4P16, American journal of human genetics, 53(3), 1993, pp. 1288-1288
Risultati: 1-25 |