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Results:
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Results: 22
Authors:
HODGKINSON CA
NAKAYAMA A
LI H
SWENSON LB
OPDECAMP K
ASHER JH
ARNHEITER H
GLASER T
Citation: Ca. Hodgkinson et al., MUTATION AT THE ANOPHTHALMIC WHITE LOCUS IN SYRIAN-HAMSTERS - HAPLOINSUFFICIENCY IN THE MITF GENE MIMICS HUMAN WAARDENBURG-SYNDROME TYPE-2, Human molecular genetics, 7(4), 1998, pp. 703-708
Authors:
DESTEFANO AL
CUPPLES LA
ARNOS KS
ASHER JH
BALDWIN CT
BLANTON S
CAREY ML
DASILVA EO
FRIEDMAN TB
GREENBERG J
LALWANI AK
MILUNSKY A
NANCE WE
PANDYA A
RAMESAR RS
READ AP
TASSABEJHI M
WILCOX ER
FARRER LA
Citation: Al. Destefano et al., CORRELATION BETWEEN WAARDENBURG-SYNDROME PHENOTYPE AND GENOTYPE IN A POPULATION OF INDIVIDUALS WITH IDENTIFIED PAX3 MUTATIONS, Human genetics, 102(5), 1998, pp. 499-506
Authors:
CAREY ML
FRIEDMAN TB
ASHER JH
INNIS JW
Citation: Ml. Carey et al., SEPTO-OPTIC DYSPLASIA AND WS1 IN THE PROBAND OF A WS1 FAMILY SEGREGATING FOR A NOVEL MUTATION IN PAX3 EXON-7, Journal of Medical Genetics, 35(3), 1998, pp. 248-250
Authors:
MORELL R
SPRITZ RA
HO L
PIERPONT J
GUO W
FRIEDMAN TB
ASHER JH
Citation: R. Morell et al., APPARENT DIGENIC INHERITANCE OF WAARDENBURG-SYNDROME TYPE-2 (WS2) ANDAUTOSOMAL RECESSIVE OCULAR ALBINISM (AROA), Human molecular genetics, 6(5), 1997, pp. 659-664
Authors:
LIANG Y
CHEN H
ASHER JH
CHANG CC
FRIEDMAN TB
Citation: Y. Liang et al., HUMAN INNER-EAR OCP2 CDNA MAPS TO 5Q22-5Q35.2 WITH RELATED SEQUENCES ON CHROMOSOMES 4P16.2-4P14, 5P13-5Q22, 7PTER-Q22, 10P13-12QTER AND 12P13-12QTER, Gene, 184(2), 1997, pp. 163-167
Authors:
INNIS JW
ASHER JH
LIANG Y
WANG A
WILKE CM
DIERICK HA
KAZENGILLESPIE K
SHELDON S
GLOVER TW
FRIEDMAN TB
Citation: Jw. Innis et al., EXCLUSION OF BMP6 AS A CANDIDATE GENE FOR CLEIDOCRANIAL DYSPLASIA, American journal of medical genetics, 71(3), 1997, pp. 292-297
Authors:
INNIS JW
ASHER JH
POZNANSKI AK
SHELDON S
Citation: Jw. Innis et al., AUTOSOMAL-DOMINANT MICROCEPHALY WITH NORMAL INTELLIGENCE, SHORT PALPEBRAL FISSURES, AND DIGITAL ANOMALIES, American journal of medical genetics, 71(2), 1997, pp. 150-155
Authors:
MORELL R
FRIEDMAN TB
ASHER JH
ROBBINS LG
Citation: R. Morell et al., THE INCIDENCE OF DEAFNESS IS NON-RANDOMLY DISTRIBUTED AMONG FAMILIES SEGREGATING FOR WAARDENBURG-SYNDROME TYPE-1 (WS1), Journal of Medical Genetics, 34(6), 1997, pp. 447-452
Authors:
MORELL R
CAREY ML
LALWANI AK
FRIEDMAN TB
ASHER JH
Citation: R. Morell et al., 3 MUTATIONS IN THE PAIRED HOMEODOMAIN OF PAX3 THAT CAUSE WAARDENBURG SYNDROME TYPE-1, Human heredity, 47(1), 1997, pp. 38-41
Authors:
ASHER JH
SOMMER A
MORELL R
FRIEDMAN TB
Citation: Jh. Asher et al., MISSENSE MUTATION IN THE PAIRED DOMAIN OF PAX3 CAUSES CRANIOFACIAL-DEAFNESS-HAND-SYNDROME, Human mutation, 7(1), 1996, pp. 30-35
Authors:
ASHER JH
HARRISON RW
MORELL R
CAREY ML
FRIEDMAN TB
Citation: Jh. Asher et al., EFFECTS OF PAX3 MODIFIER GENES ON CRANIOFACIAL MORPHOLOGY, PIGMENTATION, AND VIABILITY - A MURINE MODEL OF WAARDENBURG SYNDROME VARIATION, Genomics, 34(3), 1996, pp. 285-298
Authors:
FRIEDMAN TB
LIANG Y
WEBER JL
HINNANT JT
BARBER TD
WINATA S
ARHYA IN
ASHER JH
Citation: Tb. Friedman et al., A GENE FOR CONGENITAL, RECESSIVE DEAFNESS DFNB3 MAPS TO THE PERICENTROMERIC REGION OF CHROMOSOME-17, Nature genetics, 9(1), 1995, pp. 86-91
Authors:
MORELL R
LIANG Y
ASHER JH
WEBER JL
HINNANT JT
WINATA S
ARHYA IN
FRIEDMAN TB
Citation: R. Morell et al., ANALYSIS OF SHORT TANDEM REPEAT (STR) ALLELE FREQUENCY-DISTRIBUTIONS IN A BALINESE POPULATION, Human molecular genetics, 4(1), 1995, pp. 85-91
Authors:
WINATA S
ARHYA IN
MOELJOPAWIRO S
HINNANT JT
LIANG Y
FRIEDMAN TB
ASHER JH
Citation: S. Winata et al., CONGENITAL NON-SYNDROMAL AUTOSOMAL RECESSIVE DEAFNESS IN BENGKALA, ANISOLATED BALINESE VILLAGE, Journal of Medical Genetics, 32(5), 1995, pp. 336-343
Authors:
MORELL R
PIERPONT J
GUO W
FRIEDMAN TB
HO L
SPRITZ RA
ERICKSON RP
ASHER JH
Citation: R. Morell et al., A FRAMESHIFT MUTATION IN MITF CO-SEGREGATES ONLY WITH WAARDENBURG SYNDROME TYPE-2 (WS2) IN A FAMILY WITH BOTH WS2 AND OCULAR ALBINISM (OA), American journal of human genetics, 57(4), 1995, pp. 1276-1276
Authors:
LIANG Y
CHEN H
ASHER JH
CHANG CC
FRIEDMAN TB
Citation: Y. Liang et al., HUMAN HOMOLOGS OF OCP2, A MURINE GENE EXPRESSED PREDOMINANTLY IN THE INNER-EAR, MAP TO CHROMOSOME-4, CHROMOSOME-5, CHROMOSOME-7, CHROMOSOME-10 AND CHROMOSOME-12 - CANDIDATES FOR HEREDITARY DEAFNESS, American journal of human genetics, 57(4), 1995, pp. 1526-1526
Authors:
CAREY ML
LIANG Y
BARBER TD
MORELL R
JOHNSON DH
COX S
ASHER JH
FRIEDMAN TB
Citation: Ml. Carey et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT D14S542, Human molecular genetics, 3(9), 1994, pp. 1712-1712
Authors:
FARRER LA
ARNOS KS
ASHER JH
BALDWIN CT
DIEHL SR
FRIEDMAN TB
GREENBERG J
GRUNDFAST KM
HOTH C
LALWANI AK
LANDA B
LEVERTON K
MILUNSKY A
MORELL R
NANCE WE
NEWTON V
RAMESAR R
RAO VS
REYNOLDS JE
SANAGUSTIN TB
WILCOX ER
WINSHIP I
READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 55(4), 1994, pp. 728-737
Authors:
MORELL R
FRIEDMAN TB
ASHER JH
Citation: R. Morell et al., A PLUS-ONE FRAMESHIFT MUTATION IN PAX3 ALTERS THE ENTIRE DEDUCED AMINO-ACID-SEQUENCE OF THE PAIRED BOX IN A WAARDENBURG SYNDROME TYPE-1 (WS1) FAMILY, Human molecular genetics, 2(9), 1993, pp. 1487-1488
Authors:
BARBER TD
FRIEDMAN TB
MORELL R
JOHNSON DH
ASHER JH
Citation: Td. Barber et al., GENETIC AND MOLECULAR ANALYSES OF A MICRODISSECTION LIBRARY FROM HUMAN 2Q34-2Q37, Cytogenetics and cell genetics, 64(2), 1993, pp. 89-89
Authors:
FARRER LA
ASHER JH
BALDWIN CT
FRIEDMAN TB
GREENBERG J
GRUNDFAST KM
LALWANI AK
MILUNSKY A
MORELL R
NEWTON V
RAMESAR R
RAO VS
AGUSTIN TBS
WILCOX ER
WINSHIP I
READ AP
Citation: La. Farrer et al., LOCUS HETEROGENEITY FOR WAARDENBURG SYNDROME IS NOT PREDICTIVE OF CLINICAL SUBTYPES, American journal of human genetics, 53(3), 1993, pp. 1156-1156
Authors:
ASHER JH
PIERPONT JW
FRIEDMAN TB
Citation: Jh. Asher et al., A WAARDENBURG SYNDROME TYPE-2 (WS2) MUTATION NOT LINKED TO PAX3, American journal of human genetics, 53(3), 1993, pp. 1685-1685
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