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Results: 1-19 |
Results: 19
THE NEURAL CELL-ADHESION MOLECULE L1 - GENOMIC ORGANIZATION AND DIFFERENTIAL SPLICING IS CONSERVED BETWEEN MAN AND THE PUFFERFISH FUGU
Authors: COUTELLE O NYAKATURA G TAUDIEN S ELGAR G BRENNER S PLATZER M DRESCHER B JOUET M KENWRICK S ROSENTHAL A
Citation: O. Coutelle et al., THE NEURAL CELL-ADHESION MOLECULE L1 - GENOMIC ORGANIZATION AND DIFFERENTIAL SPLICING IS CONSERVED BETWEEN MAN AND THE PUFFERFISH FUGU, Gene, 208(1), 1998, pp. 7-15
9 NOVEL L1 CAM MUTATIONS IN FAMILIES WITH X-LINKED HYDROCEPHALUS
Authors: MACFARLANE JR DU JS PEPYS ME RAMSDEN S DONNAI D CHARLTON R GARRETT C TOLMIE J YATES JRW BERRY C GOUDIE D MONCLA A LUNT P HODGSON S JOUET M KENWRICK S
Citation: Jr. Macfarlane et al., 9 NOVEL L1 CAM MUTATIONS IN FAMILIES WITH X-LINKED HYDROCEPHALUS, Human mutation, 9(6), 1997, pp. 512-518
LINKAGE ANALYSIS IN 16 FAMILIES WITH INCONTINENTIA PIGMENTI
Authors: JOUET M STEWART H LANDY S YATES J YONG SL HARRIS A GARRET C HATCHEWELL E READ A DONNAI D KENWRICK S
Citation: M. Jouet et al., LINKAGE ANALYSIS IN 16 FAMILIES WITH INCONTINENTIA PIGMENTI, European journal of human genetics, 5(3), 1997, pp. 168-170
PRENATAL-DIAGNOSIS FOR INCONTINENTIA-PIGMENTI-2 (IP2) BY LINKED-MARKER AND X-INACTIVATION STUDIES
Authors: PAYNE SJ ROBERTSON ME KENWRICK S JOUET M GARRETT C
Citation: Sj. Payne et al., PRENATAL-DIAGNOSIS FOR INCONTINENTIA-PIGMENTI-2 (IP2) BY LINKED-MARKER AND X-INACTIVATION STUDIES, Journal of Medical Genetics, 34, 1997, pp. 416-416
USE OF AN X-INACTIVATION ASSAY TO INVESTIGATE THE AFFECTED STATUS OF FEMALES IN INCONTINENTIA PIGMENTI FAMILIES
Authors: WOFFENDIN H JOUET M LANDY S DONNAI D READ A KENWRICK S
Citation: H. Woffendin et al., USE OF AN X-INACTIVATION ASSAY TO INVESTIGATE THE AFFECTED STATUS OF FEMALES IN INCONTINENTIA PIGMENTI FAMILIES, Journal of Medical Genetics, 34, 1997, pp. 521-521
THE ROLE OF GENETICS IN UNDERSTANDING HYDROCEPHALUS AND SPINA-BIFIDA - AN UPDATE
Authors: JOUET M
Citation: M. Jouet, THE ROLE OF GENETICS IN UNDERSTANDING HYDROCEPHALUS AND SPINA-BIFIDA - AN UPDATE, European journal of pediatric surgery, 6, 1996, pp. 35-36
OUTLINE STRUCTURE OF THE HUMAN L1 CELL-ADHESION MOLECULE AND THE SITES WHERE MUTATIONS CAUSE NEUROLOGICAL DISORDERS
Authors: BATEMAN A JOUET M MACFARLANE J DU JS KENWRICK S CHOTHIA C
Citation: A. Bateman et al., OUTLINE STRUCTURE OF THE HUMAN L1 CELL-ADHESION MOLECULE AND THE SITES WHERE MUTATIONS CAUSE NEUROLOGICAL DISORDERS, EMBO journal, 15(22), 1996, pp. 6050-6059
DISCORDANT SEGREGATION OF XQ28 MARKERS AND A MUTATION IN THE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS
Authors: JOUET M STRAIN L BONTHRON D KENWRICK S
Citation: M. Jouet et al., DISCORDANT SEGREGATION OF XQ28 MARKERS AND A MUTATION IN THE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS, Journal of Medical Genetics, 33(3), 1996, pp. 248-250
X-LINKED HYDROCEPHALUS AND MASA SYNDROME
Authors: KENWRICK S JOUET M DONNAI D
Citation: S. Kenwrick et al., X-LINKED HYDROCEPHALUS AND MASA SYNDROME, Journal of Medical Genetics, 33(1), 1996, pp. 59-65
THE PATHOGENESIS OF X-LINKED HYDROCEPHALUS
Authors: JOUET M
Citation: M. Jouet, THE PATHOGENESIS OF X-LINKED HYDROCEPHALUS, European journal of pediatric surgery, 5, 1995, pp. 5-7
EXON-2 OF THE GENE FOR NEURAL CELL-ADHESION MOLECULE L1 IS ALTERNATIVELY SPLICED IN B-CELLS
Authors: JOUET M ROSENTHAL A KENWRICK S
Citation: M. Jouet et al., EXON-2 OF THE GENE FOR NEURAL CELL-ADHESION MOLECULE L1 IS ALTERNATIVELY SPLICED IN B-CELLS, Molecular brain research, 30(2), 1995, pp. 378-380
GENE ANALYSIS OF L1 NEURAL CELL-ADHESION MOLECULE IN PRENATAL-DIAGNOSIS OF HYDROCEPHALUS
Authors: JOUET M KENWRICK S
Citation: M. Jouet et S. Kenwrick, GENE ANALYSIS OF L1 NEURAL CELL-ADHESION MOLECULE IN PRENATAL-DIAGNOSIS OF HYDROCEPHALUS, Lancet, 345(8943), 1995, pp. 161-162
PRENATAL-DIAGNOSIS OF X-LINKED HYDROCEPHALUS
Authors: JOUET M GARRETT C LAXOVA R KENWRICK S
Citation: M. Jouet et al., PRENATAL-DIAGNOSIS OF X-LINKED HYDROCEPHALUS, Journal of Medical Genetics, 32(2), 1995, pp. 144-144
L1 MUTATION SCREENING - IDENTIFICATION OF A NONCONSERVATIVE MISSENSE MUTATION THAT DOES NOT SEGREGATE WITH HYDROCEPHALUS IN ONE FAMILY
Authors: MACFARLANE J JOUET M FRYER A DONNAI D WINTER R CHARLTON R HURST J KENWRICK S
Citation: J. Macfarlane et al., L1 MUTATION SCREENING - IDENTIFICATION OF A NONCONSERVATIVE MISSENSE MUTATION THAT DOES NOT SEGREGATE WITH HYDROCEPHALUS IN ONE FAMILY, Journal of Medical Genetics, 32(2), 1995, pp. 149-149
NEW DOMAINS OF NEURAL CELL-ADHESION MOLECULE L1 IMPLICATED IN X-LINKED HYDROCEPHALUS AND MASA SYNDROME
Authors: JOUET M MONCLA A PATERSON J MCKEOWN C FRYER A CARPENTER N HOLMBERG E WADELIUS C KENWRICK S
Citation: M. Jouet et al., NEW DOMAINS OF NEURAL CELL-ADHESION MOLECULE L1 IMPLICATED IN X-LINKED HYDROCEPHALUS AND MASA SYNDROME, American journal of human genetics, 56(6), 1995, pp. 1304-1314
X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE
Authors: JOUET M ROSENTHAL A ARMSTRONG G MACFARLANE J STEVENSON R PATERSON J METZENBERG A IONASESCU V TEMPLE K KENWRICK S
Citation: M. Jouet et al., X-LINKED SPASTIC PARAPLEGIA (SPG1), MASA SYNDROME AND X-LINKED HYDROCEPHALUS RESULT FROM MUTATIONS IN THE L1 GENE, Nature genetics, 7(3), 1994, pp. 402-407
A MISSENSE MUTATION CONFIRMS THE L1 DEFECT IN X-LINKED HYDROCEPHALUS (HSAS)
Authors: JOUET M ROSENTHAL A MACFARLANE J KENWRICK S DONNAI D
Citation: M. Jouet et al., A MISSENSE MUTATION CONFIRMS THE L1 DEFECT IN X-LINKED HYDROCEPHALUS (HSAS), Nature genetics, 4(4), 1993, pp. 331-331
MUTATIONS IN THE L1 LOCUS IN X-LINKED HYDROCEPHALUS
Authors: JOUET M ROSENTHAL A KENWRICK S
Citation: M. Jouet et al., MUTATIONS IN THE L1 LOCUS IN X-LINKED HYDROCEPHALUS, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 179-180
MUTATIONS IN THE L1 GENE IN HSAS AND MASA SYNDROME PATIENTS
Authors: KENWRICK S JOUET M ROSENTHAL A DONNAI D
Citation: S. Kenwrick et al., MUTATIONS IN THE L1 GENE IN HSAS AND MASA SYNDROME PATIENTS, American journal of human genetics, 53(3), 1993, pp. 148-148
Risultati: 1-19 |