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Results: 1-25 | 26-33
Results: 1-25/33
ACRO-RENAL-OCULAR SYNDROME - EXPANSION OF THE PHENOTYPE
Authors: GUILLENNAVARRO E WALLERSTEIN R REICH E ZAJAC L OSTRER H
Citation: E. Guillennavarro et al., ACRO-RENAL-OCULAR SYNDROME - EXPANSION OF THE PHENOTYPE, Clinical dysmorphology, 7(4), 1998, pp. 243-248
MUTATIONS IN THE CONNEXIN 26 GENE (GJB2) AMONG ASHKENAZI JEWS WITH NONSYNDROMIC RECESSIVE DEAFNESS
Authors: MORELL RJ KIM HJ HOOD LJ GOFORTH L FRIDERICI K FISHER R VANCAMP G BERLIN CI ODDOUX C OSTRER H KEATS B FRIEDMAN TB
Citation: Rj. Morell et al., MUTATIONS IN THE CONNEXIN 26 GENE (GJB2) AMONG ASHKENAZI JEWS WITH NONSYNDROMIC RECESSIVE DEAFNESS, The New England journal of medicine, 339(21), 1998, pp. 1500-1505
BENEFITS AND DANGERS OF GENETIC TESTS
Authors: OSTRER H
Citation: H. Ostrer, BENEFITS AND DANGERS OF GENETIC TESTS, Nature, 392(6671), 1998, pp. 14-14
SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME
Authors: TEEBI AS MILLER S OSTRER H EYDOUX P COLOMBBROCKMANN C OUDJHANE K WATTERS G
Citation: As. Teebi et al., SPASTIC PARAPLEGIA, OPTIC ATROPHY, MICROCEPHALY WITH NORMAL INTELLIGENCE, AND XY SEX REVERSAL - A NEW AUTOSOMAL RECESSIVE SYNDROME, Journal of Medical Genetics, 35(9), 1998, pp. 759-762
CARRIER SCREENING FOR CYSTIC-FIBROSIS, GAUCHER-DISEASE, AND TAY-SACHS-DISEASE IN THE ASHKENAZI JEWISH POPULATION - THE FIRST 1000 CASES AT NEW-YORK-UNIVERSITY MEDICAL-CENTER, NEW-YORK, NY
Authors: KRONN D JENSEN V OSTRER H
Citation: D. Kronn et al., CARRIER SCREENING FOR CYSTIC-FIBROSIS, GAUCHER-DISEASE, AND TAY-SACHS-DISEASE IN THE ASHKENAZI JEWISH POPULATION - THE FIRST 1000 CASES AT NEW-YORK-UNIVERSITY MEDICAL-CENTER, NEW-YORK, NY, Archives of internal medicine, 158(7), 1998, pp. 777-781
DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES
Authors: STEPHENS JC REICH DE GOLDSTEIN DB SHIN HD SMITH MW CARRINGTON M WINKLER C HUTTLEY GA ALLIKMETS R SCHRIML L GERRARD B MALASKY M RAMOS MD MORLOT S TZETIS M ODDOUX C DIGIOVINE FS NASIOULAS G CHANDLER D ASEEV M HANSON M KALAYDJIEVA L GLAVAC D GASPARINI P KANAVAKIS E CLAUSTRES M KAMBOURIS M OSTRER H DUFF G BARANOV V SIBUL H METSPALU A GOLDMAN D MARTIN N DUFFY D SCHMIDTKE J ESTIVILL X OBRIEN SJ DEAN M
Citation: Jc. Stephens et al., DATING THE ORIGIN OF THE CCR5-DELTA-32 AIDS-RESISTANCE ALLELE BY THE COALESCENCE OF HAPLOTYPES, American journal of human genetics, 62(6), 1998, pp. 1507-1515
FAMILIAL COLORECTAL-CANCER IN ASHKENAZIM DUE TO A HYPERMUTABLE TRACT IN APC
Authors: LAKEN SJ PETERSEN GM GRUBER SB ODDOUX C OSTRER H GIARDIELLO FM HAMILTON SR HAMPEL H MARKOWITZ A KLIMSTRA D JHANWAR S WINAWER S OFFIT K LUCE MC KINZLER KW VOGELSTEIN B
Citation: Sj. Laken et al., FAMILIAL COLORECTAL-CANCER IN ASHKENAZIM DUE TO A HYPERMUTABLE TRACT IN APC, Nature genetics, 17(1), 1997, pp. 79-83
MUTATIONS AND SEQUENCE VARIANTS IN THE TESTIS-DETERMINING REGION OF THE Y-CHROMOSOME IN INDIVIDUALS WITH A 46,XY FEMALE PHENOTYPE
Authors: VEITIA R ION A BARBAUX S JOBLING MA SOULEYREAU N ENNIS K OSTRER H TOSI M MEO T CHIBANI J FELLOUS M MCELREAVEY K
Citation: R. Veitia et al., MUTATIONS AND SEQUENCE VARIANTS IN THE TESTIS-DETERMINING REGION OF THE Y-CHROMOSOME IN INDIVIDUALS WITH A 46,XY FEMALE PHENOTYPE, Human genetics, 99(5), 1997, pp. 648-652
X-INACTIVATION AND CYTOGENETIC STUDIES IN A FAMILY WITH SENSORINEURALHEARING-LOSS AND TURNER-SYNDROME
Authors: SCULERATI N PERLE MA ODDOUX C CLAYTON M OSTRER H
Citation: N. Sculerati et al., X-INACTIVATION AND CYTOGENETIC STUDIES IN A FAMILY WITH SENSORINEURALHEARING-LOSS AND TURNER-SYNDROME, Otolaryngology and head and neck surgery, 117(6), 1997, pp. 221-225
ROBINOW-SYNDROME WITH DEVELOPMENTAL BRAIN DYSPLASIA
Authors: GUILLENNAVARRO E WALLERSTEIN R REICH E ZAJAC L OSTRER H
Citation: E. Guillennavarro et al., ROBINOW-SYNDROME WITH DEVELOPMENTAL BRAIN DYSPLASIA, American journal of medical genetics, 73(1), 1997, pp. 98-99
MUTATION OF A CONSERVED CYSTEINE IN THE X-LINKED CONE OPSINS CAUSES COLOR-VISION DEFICIENCIES BY DISRUPTING PROTEIN-FOLDING AND STABILITY
Authors: KAZMI MA SAKMAR TP OSTRER H
Citation: Ma. Kazmi et al., MUTATION OF A CONSERVED CYSTEINE IN THE X-LINKED CONE OPSINS CAUSES COLOR-VISION DEFICIENCIES BY DISRUPTING PROTEIN-FOLDING AND STABILITY, Investigative ophthalmology & visual science, 38(6), 1997, pp. 1074-1081
SRY GENE-EXPRESSION IN THE OVOTESTES OF XX TRUE HERMAPHRODITES
Authors: ORTENBERG J CRAVER R GILLENNAVARRO E ODDOUX C OSTRER H
Citation: J. Ortenberg et al., SRY GENE-EXPRESSION IN THE OVOTESTES OF XX TRUE HERMAPHRODITES, Pediatrics, 100(3), 1997, pp. 570-570
SEVERE FACTOR-XI DEFICIENCY IN AN ARAB FAMILY ASSOCIATED WITH A NOVELMUTATION IN EXON-11
Authors: WISTINGHAUSEN B REISCHER A ODDOUX C OSTRER H NARDI M KARPATKIN M
Citation: B. Wistinghausen et al., SEVERE FACTOR-XI DEFICIENCY IN AN ARAB FAMILY ASSOCIATED WITH A NOVELMUTATION IN EXON-11, British Journal of Haematology, 99(3), 1997, pp. 575-577
A RARE DE-NOVO MICRODELETION OF DISTAL CHROMOSOME 6P - CLINICAL PHENOTYPE AND MOLECULAR CYTOGENETIC CHARACTERIZATION
Authors: GUILLENNAVARRO E CHAN WC RAGOUSSIS J DAVIES AF OSTRER H PERLE MA
Citation: E. Guillennavarro et al., A RARE DE-NOVO MICRODELETION OF DISTAL CHROMOSOME 6P - CLINICAL PHENOTYPE AND MOLECULAR CYTOGENETIC CHARACTERIZATION, American journal of human genetics, 61(4), 1997, pp. 719-719
SPATIOTEMPORAL EXPRESSION PATTERNS OF THE SEX-DETERMINING GENES, SRY,SOX9, AND WT1, DURING EARLY HUMAN-DEVELOPMENT
Authors: HANLEY NA HAGAN DM OSTRER H GUILLENNAVARRO E WILSON DI BULLEN P LINDSAY S ROBSON S CLEMENTJONES M STRACHAN T
Citation: Na. Hanley et al., SPATIOTEMPORAL EXPRESSION PATTERNS OF THE SEX-DETERMINING GENES, SRY,SOX9, AND WT1, DURING EARLY HUMAN-DEVELOPMENT, American journal of human genetics, 61(4), 1997, pp. 878-878
GENETIC-EVIDENCE FOR A COMMON ORIGIN AMONG ROMAN JEWS AND ASHKENAZI JEWS
Authors: ODDOUX C GUILLENNAVARRO E CLAYTON CM NELSON H PERETZ H SELIGSOHN U LUZZATTO L NARDI M KARPATKIN M DITIVOLI C DICAVE E AXELROD F OSTRER H
Citation: C. Oddoux et al., GENETIC-EVIDENCE FOR A COMMON ORIGIN AMONG ROMAN JEWS AND ASHKENAZI JEWS, American journal of human genetics, 61(4), 1997, pp. 1200-1200
GENETIC MECHANISMS OF HUMAN COLOR-VISION DEFICIENCIES
Authors: OSTRER H KAZMI MA
Citation: H. Ostrer et Ma. Kazmi, GENETIC MECHANISMS OF HUMAN COLOR-VISION DEFICIENCIES, American journal of human genetics, 61(4), 1997, pp. 2004-2004
MAPPING OF TESTIS-DETERMINING GENES BY LINKAGE ANALYSIS IN FAMILIES WITH SEX REVERSAL
Authors: JAWAHEER D MCELREAVEY K BERKOVITZ G BRAUN A GREGERSEN PK OSTRER H
Citation: D. Jawaheer et al., MAPPING OF TESTIS-DETERMINING GENES BY LINKAGE ANALYSIS IN FAMILIES WITH SEX REVERSAL, American journal of human genetics, 61(4), 1997, pp. 2340-2340
THE CARRIER FREQUENCY OF THE BRCA2 6174DELT MUTATION AMONG ASHKENAZI JEWISH INDIVIDUALS IS APPROXIMATELY 1-PERCENT
Authors: ODDOUX C STRUEWING JP CLAYTON CM NEUHAUSEN S BRODY LC KABACK M HAAS B NORTON L BORGEN P JHANWAR S GOLDGAR D OSTRER H OFFIT K
Citation: C. Oddoux et al., THE CARRIER FREQUENCY OF THE BRCA2 6174DELT MUTATION AMONG ASHKENAZI JEWISH INDIVIDUALS IS APPROXIMATELY 1-PERCENT, Nature genetics, 14(2), 1996, pp. 188-190
HIGH-LEVEL INDUCIBLE EXPRESSION OF VISUAL PIGMENTS IN TRANSFECTED CELLS
Authors: KAZMI MA DUBIN RA ODDOUX C OSTRER H
Citation: Ma. Kazmi et al., HIGH-LEVEL INDUCIBLE EXPRESSION OF VISUAL PIGMENTS IN TRANSFECTED CELLS, BioTechniques, 21(2), 1996, pp. 304
SHORTENED TELOMERES IN CLONALLY EXPANDED CD28(-)CD8(-CELLS IMPLY A REPLICATIVE HISTORY THAT IS DISTINCT FROM THEIR CD28(+)CD8(+) COUNTERPARTS() T)
Authors: MONTEIRO J BATLIWALLA F OSTRER H GREGERSEN PK
Citation: J. Monteiro et al., SHORTENED TELOMERES IN CLONALLY EXPANDED CD28(-)CD8(-CELLS IMPLY A REPLICATIVE HISTORY THAT IS DISTINCT FROM THEIR CD28(+)CD8(+) COUNTERPARTS() T), The Journal of immunology, 156(10), 1996, pp. 3587-3590
LINKAGE ANALYSIS OF A KINDRED WITH INHERITED 46,XY PARTIAL GONADAL-DYSGENESIS
Authors: FUQUA JS SHER ES FECHNER PY OSTRER H ODDEUX C SCHAFER AJ ROSALES TO MIGEON CJ BERKOVITZ GD
Citation: Js. Fuqua et al., LINKAGE ANALYSIS OF A KINDRED WITH INHERITED 46,XY PARTIAL GONADAL-DYSGENESIS, The Journal of clinical endocrinology and metabolism, 81(12), 1996, pp. 4479-4483
FUNCTIONAL COMPARISON OF THE MUS MUSCULUS MOLOSSINUS AND MUS-MUSCULUS-DOMESTICUS SRY GENES
Authors: DUBIN RA COWARD P LAU YFC OSTRER H
Citation: Ra. Dubin et al., FUNCTIONAL COMPARISON OF THE MUS MUSCULUS MOLOSSINUS AND MUS-MUSCULUS-DOMESTICUS SRY GENES, Molecular endocrinology, 9(12), 1995, pp. 1645-1654
INVERTED REPEATS ARE NECESSARY FOR CIRCULARIZATION OF THE MOUSE TESTIS SRY TRANSCRIPT
Authors: DUBIN RA KAZMI MA OSTRER H
Citation: Ra. Dubin et al., INVERTED REPEATS ARE NECESSARY FOR CIRCULARIZATION OF THE MOUSE TESTIS SRY TRANSCRIPT, Gene, 167(1-2), 1995, pp. 245-248
PRENATAL DIAGNOSTIC TESTING FOR FAMILIAL DYSAUTONOMIA USING LINKED GENETIC-MARKERS
Authors: ODDOUX C REICH E AXELROD F BLUMENFELD A MAAYAN C SLAUGENHAUPT S GUSELLA J OSTRER H
Citation: C. Oddoux et al., PRENATAL DIAGNOSTIC TESTING FOR FAMILIAL DYSAUTONOMIA USING LINKED GENETIC-MARKERS, Prenatal diagnosis, 15(9), 1995, pp. 817-826
Risultati: 1-25 | 26-33