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Results: 1-25 | 26-29
Results: 1-25/29
MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE
Authors: PINGAULT V BONDURAND N KUHLBRODT K GOERICH DE PREHU MO PULITI A LEMORT N LEGIUS E MATTHIJS G AMIEL J LYONNET S CECCHERINI I ROMEO G CLAYTONSMITH J READ AP WEGNER M GOOSSENS M
Citation: V. Pingault et al., MUTATIONS OF THE SOX10 GENE IN WAARDENBURG-HIRSCHSPRUNG-DISEASE, European journal of human genetics, 6, 1998, pp. 402-402
THE DETECTION OF SUBMICROSCOPIC CHROMOSOME REARRANGEMENTS IN CHILDRENWITH IDIOPATHIC MENTAL-RETARDATION AND PHYSICAL DIFFERENCES
Authors: SLAVOTINEK A ROSENBERG M KNIGHT S FERGUSSON W GAUNT L CLAYTONSMITH J KINGSTON H FLINT J BIESECKER L DONNAI D
Citation: A. Slavotinek et al., THE DETECTION OF SUBMICROSCOPIC CHROMOSOME REARRANGEMENTS IN CHILDRENWITH IDIOPATHIC MENTAL-RETARDATION AND PHYSICAL DIFFERENCES, European journal of human genetics, 6, 1998, pp. 2079-2079
LOCUS HETEROGENEITY IN AUTOSOMAL-DOMINANT CONGENITAL EXTERNAL OPHTHALMOPLEGIA (CFEOM)
Authors: BLACK GCM PERVEEN R HATCHWELL E RECK A CLAYTONSMITH J
Citation: Gcm. Black et al., LOCUS HETEROGENEITY IN AUTOSOMAL-DOMINANT CONGENITAL EXTERNAL OPHTHALMOPLEGIA (CFEOM), Journal of Medical Genetics, 35(12), 1998, pp. 985-988
MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME
Authors: CLAYTONSMITH J KERR B BRUNNER H TRANEBJAERG L MAGEE A HENNEKAM RCM MUELLER RF BRUETON L SUPER M STEENJOHNSEN J DONNAI D
Citation: J. Claytonsmith et al., MACROCEPHALY WITH CUTIS MARMORATA, HEMANGIOMA AND SYNDACTYLY - A DISTINCTIVE OVERGROWTH SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 291-302
6TH ROBERT-J-GORLIN-CONFERENCE ON DYSMORPHOLOGY, UNIVERSITY-OF-MINNESOTA, 25-26-OCTOBER-1996
Authors: CLAYTONSMITH J DONNAI D
Citation: J. Claytonsmith et D. Donnai, 6TH ROBERT-J-GORLIN-CONFERENCE ON DYSMORPHOLOGY, UNIVERSITY-OF-MINNESOTA, 25-26-OCTOBER-1996, Clinical dysmorphology, 6(2), 1997, pp. 183-186
FAMILIAL PATENT DUCTUS-ARTERIOSUS - A FURTHER CASE OF CHAR SYNDROME
Authors: SLAVOTINEK A CLAYTONSMITH J SUPER M
Citation: A. Slavotinek et al., FAMILIAL PATENT DUCTUS-ARTERIOSUS - A FURTHER CASE OF CHAR SYNDROME, American journal of medical genetics, 71(2), 1997, pp. 229-232
LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME
Authors: LINDSAY S IRELAND M OBRIEN O CLAYTONSMITH J HURST JA MANN J COLE T SAMPSON J SLANEY S SCHLESSINGER D BURN J PILIA G
Citation: S. Lindsay et al., LARGE-SCALE DELETIONS IN THE GPC3 GENE MAY ACCOUNT FOR A MINORITY OF CASES OF SIMPSON-GOLABI-BEHMEL-SYNDROME, Journal of Medical Genetics, 34(6), 1997, pp. 480-483
SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY
Authors: RYAN AK GOODSHIP JA WILSON DI PHILIP N LEVY A SEIDEL H SCHUFFENHAUER S OECHSLER H BELOHRADSKY B PRIEUR M AURIAS A RAYMOND FL CLAYTONSMITH J HATCHWELL E MCKEOWN C BEEMER FA DALLAPICCOLA B NOVELLI G HURST JA IGNATIUS J GREEN AJ WINTER RM BRUETON L BRONDUMNIELSEN K STEWART F VANESSEN T PATTON M PATERSON J SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
2 CASES OF SUPERNUMERARY RING CHROMOSOME MOSAICISM DIAGNOSED PRENATALLY
Authors: DURELL S NEWMAN B HASLAM J GUILD J CLAYTONSMITH J
Citation: S. Durell et al., 2 CASES OF SUPERNUMERARY RING CHROMOSOME MOSAICISM DIAGNOSED PRENATALLY, Journal of Medical Genetics, 34, 1997, pp. 402-402
GENETIC-COUNSELING IN HEREDITARY EYE DISORDERS - A PRESENTATION OF 2 CASE-REPORTS
Authors: HALL G FAULKNER C LLOYD C BLACK G CLANCY T CLAYTONSMITH J
Citation: G. Hall et al., GENETIC-COUNSELING IN HEREDITARY EYE DISORDERS - A PRESENTATION OF 2 CASE-REPORTS, Journal of Medical Genetics, 34, 1997, pp. 603-603
SCREENING FOR SUBTELOMERIC CHROMOSOME DELETIONS IN CHILDREN WITH IDIOPATHIC MENTAL-RETARDATION
Authors: SLAVOTINEK A KNIGHT SJL TASSABEHJI M CLAYTONSMITH J KINGSTON H GAUNT L FLINT J DONNAI D
Citation: A. Slavotinek et al., SCREENING FOR SUBTELOMERIC CHROMOSOME DELETIONS IN CHILDREN WITH IDIOPATHIC MENTAL-RETARDATION, Journal of Medical Genetics, 34, 1997, pp. 1206-1206
ANTERIOR SEGMENT DYSGENESIS IN MOSAIC TURNER SYNDROME
Authors: LLOYD IC HAIGH PM CLAYTONSMITH J CLAYTON P PRICE DA RIDGWAY AEA DONNAI D
Citation: Ic. Lloyd et al., ANTERIOR SEGMENT DYSGENESIS IN MOSAIC TURNER SYNDROME, British journal of ophthalmology, 81(8), 1997, pp. 639-643
EVOLVING PHENOTYPE OF MARFANS-SYNDROME
Authors: LIPSCOMB KJ CLAYTONSMITH J HARRIS R
Citation: Kj. Lipscomb et al., EVOLVING PHENOTYPE OF MARFANS-SYNDROME, Archives of Disease in Childhood, 76(1), 1997, pp. 41-46
IMPRINTING MUTATION IN THE BECKWITH-WIEDEMANN SYNDROME LEADS TO BIALLELIC IGF2 EXPRESSION THROUGH AN H19-INDEPENDENT PATHWAY
Authors: BROWN KW VILLAR AJ BICKMORE W CLAYTONSMITH J CATCHPOOLE D MAHER ER REIK W
Citation: Kw. Brown et al., IMPRINTING MUTATION IN THE BECKWITH-WIEDEMANN SYNDROME LEADS TO BIALLELIC IGF2 EXPRESSION THROUGH AN H19-INDEPENDENT PATHWAY, Human molecular genetics, 5(12), 1996, pp. 2027-2032
ANTERIOR SEGMENT DYSGENESIS IN TURNERS-SYNDROME MOSAICISM
Authors: HAIGH PM LLOYD IC CLAYTONSMITH J DONNAI D RIDGWAY AEA
Citation: Pm. Haigh et al., ANTERIOR SEGMENT DYSGENESIS IN TURNERS-SYNDROME MOSAICISM, Investigative ophthalmology & visual science, 37(3), 1996, pp. 152-152
SPONTANEOUS AORTIC RUPTURE IN A 22-YEAR-OLD
Authors: MEMON MA NICHOLSON CM CLAYTONSMITH J
Citation: Ma. Memon et al., SPONTANEOUS AORTIC RUPTURE IN A 22-YEAR-OLD, Postgraduate medical journal, 72(847), 1996, pp. 311-313
22Q11 DELETION - A CAUSE OF ASYMMETRIC CRYING FACIES
Authors: STEWART HS CLAYTONSMITH J
Citation: Hs. Stewart et J. Claytonsmith, 22Q11 DELETION - A CAUSE OF ASYMMETRIC CRYING FACIES, Archives of Disease in Childhood, 75(1), 1996, pp. 89-89
ON THE PREVALENCE OF ANGELMAN SYNDROME
Authors: CLAYTONSMITH J
Citation: J. Claytonsmith, ON THE PREVALENCE OF ANGELMAN SYNDROME, American journal of medical genetics, 59(3), 1995, pp. 403-404
ANGELMAN SYNDROME - CONSENSUS FOR DIAGNOSTIC-CRITERIA
Authors: WILLIAMS CA ANGELMAN H CLAYTONSMITH J DRISCOLL DJ HENDRICKSON JE KNOLL JHM MAGENIS RE SCHINZEL A WAGSTAFF J WHIDDEN EM ZORI RT
Citation: Ca. Williams et al., ANGELMAN SYNDROME - CONSENSUS FOR DIAGNOSTIC-CRITERIA, American journal of medical genetics, 56(2), 1995, pp. 237-238
CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X)
Authors: GIBBONS RJ BRUETON L BUCKLE VJ BURN J CLAYTONSMITH J DAVISON BCC GARDNER RJM HOMFRAY T KEARNEY L KINGSTON HM NEWBURYECOB R PORTEOUS MEP WILKIE AOM HIGGS DR
Citation: Rj. Gibbons et al., CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X), American journal of medical genetics, 55(3), 1995, pp. 288-299
FETAL VALPROATE SYNDROME
Authors: CLAYTONSMITH J DONNAI D
Citation: J. Claytonsmith et D. Donnai, FETAL VALPROATE SYNDROME, Journal of Medical Genetics, 32(9), 1995, pp. 724-727
A CASE OF ANGELMAN-SYNDROME ARISING AS A RESULT OF A DE-NOVO ROBERTSONIAN 15 15-TRANSLOCATION/
Authors: CLAYTONSMITH J RAMSDEN SC GAUNT L SERESSANTAMARIA A
Citation: J. Claytonsmith et al., A CASE OF ANGELMAN-SYNDROME ARISING AS A RESULT OF A DE-NOVO ROBERTSONIAN 15 15-TRANSLOCATION/, Journal of Medical Genetics, 32(2), 1995, pp. 154-154
CARDIOVASCULAR MALFORMATIONS IN TURNERS-SYNDROME
Authors: PARCHMENT C CLAYTONSMITH J
Citation: C. Parchment et J. Claytonsmith, CARDIOVASCULAR MALFORMATIONS IN TURNERS-SYNDROME, Archives of Disease in Childhood, 72(6), 1995, pp. 543-543
ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB
Authors: BUXTON JL CHAN CTJ GILBERT H CLAYTONSMITH J BURN J PEMBREY M MALCOLM S
Citation: Jl. Buxton et al., ANGELMAN SYNDROME-ASSOCIATED WITH A MATERNAL 15Q11-13 DELETION OF LESS-THAN 200 KB, Human molecular genetics, 3(8), 1994, pp. 1409-1413
DEFINITION OF THE ANGELMAN-SYNDROME CRITICAL REGION ON CHROMOSOME-15Q11-]Q13
Authors: BUXTON JL CHAN CTJ GILBERT HL CLAYTONSMITH J PEMBREY ME MALCOLM S
Citation: Jl. Buxton et al., DEFINITION OF THE ANGELMAN-SYNDROME CRITICAL REGION ON CHROMOSOME-15Q11-]Q13, Cytogenetics and cell genetics, 67(1), 1994, pp. 16-16
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