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Results: 1-25 | 26-28
Results: 1-25/28
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: SCHNUR RE GAO M WICK PA KELLER M BENKE PJ EDWARDS MJ GRIX AW HOCKEY A JUNG JH KIDD KK KISTENMACHER M LEVIN AV LEWIS RA MUSARELLA MA NOWAKOWSKI RW ORLOW SJ PAGON RS PILLERS DAM PUNNETT HH QUINN GE TEZCAN K WAGSTAFF J WELEBER RG
Citation: Re. Schnur et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 62(4), 1998, pp. 800-809
HEMIFACIAL MICROSOMIA IN A NEWBORN WITH HYPOPLASTIC SKIN-LESIONS, AN EYELID SKIN TAG, AND MICROPHTHALMIA - AN UNUSUAL PRESENTATION OF DELLEMAN-SYNDROME
Authors: MING JE KATOWITZ J MCDONALDMCGINN DM SCHNUR RE HUNTER JV ZACKAI EH
Citation: Je. Ming et al., HEMIFACIAL MICROSOMIA IN A NEWBORN WITH HYPOPLASTIC SKIN-LESIONS, AN EYELID SKIN TAG, AND MICROPHTHALMIA - AN UNUSUAL PRESENTATION OF DELLEMAN-SYNDROME, Clinical dysmorphology, 7(4), 1998, pp. 279-283
CLUSTERED ANGIOFIBROMAS ON THE EAR OF A PATIENT WITH NEUROFIBROMATOSIS TYPE-2
Authors: JAFFE AT HEYMANN WR SCHNUR RE
Citation: At. Jaffe et al., CLUSTERED ANGIOFIBROMAS ON THE EAR OF A PATIENT WITH NEUROFIBROMATOSIS TYPE-2, Archives of dermatology, 134(6), 1998, pp. 760-761
RETICULATE HYPERPIGMENTATION
Authors: SCHNUR RE HEYMANN WR
Citation: Re. Schnur et Wr. Heymann, RETICULATE HYPERPIGMENTATION, Seminars in cutaneous medicine and surgery, 16(1), 1997, pp. 72-80
NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1)
Authors: SPRITZ RA OH J FUKAI K HOLMES SA HO LL CHITAYAT D FRANCE TD MUSARELLA MA ORLOW SJ SCHNUR RE WELEBER RG LEVIN AV
Citation: Ra. Spritz et al., NOVEL MUTATIONS OF THE TYROSINASE (TYR) GENE IN TYPE-I OCULOCUTANEOUSALBINISM (OCA1), Human mutation, 10(2), 1997, pp. 171-174
ACUTE LYMPHOBLASTIC-LEUKEMIA IN A CHILD WITH THE CHIME NEUROECTODERMAL DYSPLASIA SYNDROME
Authors: SCHNUR RE GREENBAUM BH HEYMANN WR CHRISTENSEN K BUCK AS REID CS
Citation: Re. Schnur et al., ACUTE LYMPHOBLASTIC-LEUKEMIA IN A CHILD WITH THE CHIME NEUROECTODERMAL DYSPLASIA SYNDROME, American journal of medical genetics, 72(1), 1997, pp. 24-29
UTILITY OF LINKED MARKERS IN GENETIC-COUNSELING - ESTIMATION OF CARRIER RISKS IN X-LINKED OCULAR ALBINISM
Authors: REBBECK TR JORDAN HA SCHNUR RE ROGATKO A
Citation: Tr. Rebbeck et al., UTILITY OF LINKED MARKERS IN GENETIC-COUNSELING - ESTIMATION OF CARRIER RISKS IN X-LINKED OCULAR ALBINISM, American journal of medical genetics, 70(1), 1997, pp. 58-66
CIRCUMFERENTIAL RINGED CREASES (MICHELIN TIRE BABIES) WITH SPECIFIC HISTOLOGIC-FINDINGS AND OR KARYOTYPE ABNORMALITIES - CLUES TO MOLECULARPATHOGENESIS/
Authors: SCHNUR RE ZACKAI EH
Citation: Re. Schnur et Eh. Zackai, CIRCUMFERENTIAL RINGED CREASES (MICHELIN TIRE BABIES) WITH SPECIFIC HISTOLOGIC-FINDINGS AND OR KARYOTYPE ABNORMALITIES - CLUES TO MOLECULARPATHOGENESIS/, American journal of medical genetics, 69(2), 1997, pp. 221-221
MAGNETIZATION-TRANSFER IN THE INVESTIGATION OF PATIENTS WITH TUBEROUSSCLEROSIS
Authors: GIRARD N ZIMMERMAN RA SCHNUR RE HASELGROVE J CHRISTENSEN K
Citation: N. Girard et al., MAGNETIZATION-TRANSFER IN THE INVESTIGATION OF PATIENTS WITH TUBEROUSSCLEROSIS, Neuroradiology, 39(7), 1997, pp. 523-528
EPIDERMAL NEVUS SYNDROME MIMICKING HYPOMELANOSIS OF ITO IN AFRICAN-AMERICAN CHILDREN
Authors: SCHNUR RE REED LA BARNOSKI BL MCMORROW LE SPINNER NB HEYMANN WR
Citation: Re. Schnur et al., EPIDERMAL NEVUS SYNDROME MIMICKING HYPOMELANOSIS OF ITO IN AFRICAN-AMERICAN CHILDREN, American journal of human genetics, 61(4), 1997, pp. 630-630
CONGENITAL CHYLOTHORAX AND THE PRADER-WILLI-SYNDROME
Authors: REED LA IMAIZUMI S FISCHER R WESTOVER T SHAPIRO F SCHNUR RE
Citation: La. Reed et al., CONGENITAL CHYLOTHORAX AND THE PRADER-WILLI-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 922-922
OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM
Authors: GAO M WICK PA SCHNUR RE
Citation: M. Gao et al., OA1 MUTATIONS AND DELETIONS IN X-LINKED OCULAR ALBINISM, American journal of human genetics, 61(4), 1997, pp. 1953-1953
ABLEPHARON MACROSTOMIA SYNDROME WITH ASSOCIATED CUTIS LAXA - POSSIBLELOCALIZATION TO 18Q
Authors: PELLEGRINO JE SCHNUR RE BOGHOSIANSELL L STRATHDEE G OVERHAUSER J SPINNER NB STUMP T GRACE K ZACKAI EH
Citation: Je. Pellegrino et al., ABLEPHARON MACROSTOMIA SYNDROME WITH ASSOCIATED CUTIS LAXA - POSSIBLELOCALIZATION TO 18Q, Human genetics, 97(4), 1996, pp. 532-536
TYPE-I OCULOCUTANEOUS ALBINISM ASSOCIATED WITH A FULL-LENGTH DELETIONOF THE TYROSINASE GENE
Authors: SCHNUR RE SELLINGER BT HOLMES SA WICK PA TATSUMURA YO SPRITZ RA
Citation: Re. Schnur et al., TYPE-I OCULOCUTANEOUS ALBINISM ASSOCIATED WITH A FULL-LENGTH DELETIONOF THE TYROSINASE GENE, Journal of investigative dermatology, 106(5), 1996, pp. 1137-1140
AUTOSOMAL RECESSIVE OCULAR ALBINISM ASSOCIATED WITH A FUNCTIONALLY SIGNIFICANT TYROSINASE GENE POLYMORPHISM
Authors: FUKAI K HOLMES SA LUCCHESE NJ SIU VM WELEBER RG SCHNUR RE SPRITZ RA
Citation: K. Fukai et al., AUTOSOMAL RECESSIVE OCULAR ALBINISM ASSOCIATED WITH A FUNCTIONALLY SIGNIFICANT TYROSINASE GENE POLYMORPHISM, Nature genetics, 9(1), 1995, pp. 92-95
MOSAIC LOSS OF 15Q11Q13 IN A PATIENT WITH HYPOMELANOSIS OF ITO - IS THERE A ROLE FOR THE P-GENE
Authors: PELLEGRINO JE SCHNUR RE KLINE R ZACKAI EH SPINNER NB
Citation: Je. Pellegrino et al., MOSAIC LOSS OF 15Q11Q13 IN A PATIENT WITH HYPOMELANOSIS OF ITO - IS THERE A ROLE FOR THE P-GENE, Human genetics, 96(4), 1995, pp. 485-489
INTRAGENIC TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM (RFLP) IN CLCN4, BETWEEN THE LOCI FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS)
Authors: SCHNUR RE WICK PA
Citation: Re. Schnur et Pa. Wick, INTRAGENIC TAQI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM (RFLP) IN CLCN4, BETWEEN THE LOCI FOR X-LINKED OCULAR ALBINISM (OA1) AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME (MLS), Human genetics, 95(5), 1995, pp. 594-595
REEVALUATION OF A KINDRED WITH CONGENITAL ABSENCE OF DERMAL RIDGES, SYNDACTYLY, AND FACIAL MILIA
Authors: CIRILLOHYLAND VA ZACKAI EH HONIG PJ GRACE KR SCHNUR RE
Citation: Va. Cirillohyland et al., REEVALUATION OF A KINDRED WITH CONGENITAL ABSENCE OF DERMAL RIDGES, SYNDACTYLY, AND FACIAL MILIA, Journal of the American Academy of Dermatology, 32(2), 1995, pp. 315-318
TUBEROUS SCLEROSIS - THE PERSISTENT CHALLENGE OF CLINICAL-DIAGNOSIS
Authors: SCHNUR RE
Citation: Re. Schnur, TUBEROUS SCLEROSIS - THE PERSISTENT CHALLENGE OF CLINICAL-DIAGNOSIS, Archives of dermatology, 131(12), 1995, pp. 1460-1462
A NEW CASE OF THE ZUNICH NEUROECTODERMAL DYSPLASIA (CHIME) SYNDROME
Authors: CHRISTENSEN K BUCK A REID C SCHNUR RE
Citation: K. Christensen et al., A NEW CASE OF THE ZUNICH NEUROECTODERMAL DYSPLASIA (CHIME) SYNDROME, American journal of human genetics, 57(4), 1995, pp. 462-462
ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM
Authors: GAO M WICK PA LEWIS RA NOWAKOWSKI R RAPPAPORT E SCHNUR RE
Citation: M. Gao et al., ANALYSIS OF OA1 MUTATIONS IN PATIENTS WITH X-LINKED OCULAR ALBINISM, American journal of human genetics, 57(4), 1995, pp. 1226-1226
X-INACTIVATION PATTERNS IN GOLTZ AND AICARDI SYNDROMES
Authors: SCHNUR RE GAO M WICK PA CHRISTENSEN K NEIDICH JA
Citation: Re. Schnur et al., X-INACTIVATION PATTERNS IN GOLTZ AND AICARDI SYNDROMES, American journal of human genetics, 57(4), 1995, pp. 1452-1452
DIVERSE MUTATIONS OF THE P-GENE AMONG AFRICAN-AMERICANS WITH TYPE-II (TYROSINASE-POSITIVE) OCULOCUTANEOUS ALBINISM (OCA2)
Authors: LEE ST NICHOLLS RD SCHNUR RE GUIDA LC LUKUO J SPINNER NB ZACKAI EH SPRITZ RA
Citation: St. Lee et al., DIVERSE MUTATIONS OF THE P-GENE AMONG AFRICAN-AMERICANS WITH TYPE-II (TYROSINASE-POSITIVE) OCULOCUTANEOUS ALBINISM (OCA2), Human molecular genetics, 3(11), 1994, pp. 2047-2051
BUSCHKE-OLLENDORFF SYNDROME, OTOSCLEROSIS, AND CONGENITAL SPINAL STENOSIS
Authors: SCHNUR RE GRACE K HERZBERG A
Citation: Re. Schnur et al., BUSCHKE-OLLENDORFF SYNDROME, OTOSCLEROSIS, AND CONGENITAL SPINAL STENOSIS, Pediatric dermatology, 11(1), 1994, pp. 31-34
PHENOTYPIC VARIABILITY IN X-LINKED OCULAR ALBINISM - RELATIONSHIP TO LINKAGE GENOTYPES
Authors: SCHNUR RE WICK PA BAILEY C REBBECK T WELEBER RG WAGSTAFF J GRIX AW PAGON RA HOCKEY A EDWARDS MJ
Citation: Re. Schnur et al., PHENOTYPIC VARIABILITY IN X-LINKED OCULAR ALBINISM - RELATIONSHIP TO LINKAGE GENOTYPES, American journal of human genetics, 55(3), 1994, pp. 484-496
Risultati: 1-25 | 26-28