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Results: 1-9 |
Results: 9
X-LINKED MENTAL-RETARDATION WITH ISOLATED GROWTH-HORMONE DEFICIENCY IS MAPPED TO XQ22-XQ27.2 IN ONE FAMILY
Authors: RAYNAUD M RONCE N AYRAULT AD FRANCANNET C MALPUECH G MORAINE C
Citation: M. Raynaud et al., X-LINKED MENTAL-RETARDATION WITH ISOLATED GROWTH-HORMONE DEFICIENCY IS MAPPED TO XQ22-XQ27.2 IN ONE FAMILY, American journal of medical genetics, 76(3), 1998, pp. 255-261
OLIGOPHRENIN-1 ENCODES A RHOGAP PROTEIN INVOLVED IN X-LINKED MENTAL-RETARDATION
Authors: BILLUART P BIENVENU T RONCE N DESPORTES V VINET MC ZEMNI R CROLLIUS HR CARRIE A FAUCHEREAU F CHERRY M BRIAULT S HAMEL B FRYNS JP BELDJORD C KAHN A MORAINE C CHELLY J
Citation: P. Billuart et al., OLIGOPHRENIN-1 ENCODES A RHOGAP PROTEIN INVOLVED IN X-LINKED MENTAL-RETARDATION, Nature, 392(6679), 1998, pp. 923-926
NANCE-HORAN SYNDROME - LINKAGE ANALYSIS IN 4 FAMILIES REFINES LOCALIZATION IN XP22.31-P22.13
Authors: TOUTAIN A RONCE N DESSAY B ROBB L FRANCANNET C LEMERRER M BRIARD ML KAPLAN J MORAINE C
Citation: A. Toutain et al., NANCE-HORAN SYNDROME - LINKAGE ANALYSIS IN 4 FAMILIES REFINES LOCALIZATION IN XP22.31-P22.13, Human genetics, 99(2), 1997, pp. 256-261
A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION
Authors: BRIAULT S HILL R SHRIMPTON A ZHU DP TILL M RONCE N MARGARITTEJEANNIN P BARAITSER M MIDDLETONPRICE H MALCOLM S THOMPSON E HOO J WILSON G ROMANO C GUICHET A PEMBREY M FONTES M POUSTKA A MORAINE C
Citation: S. Briault et al., A GENE FOR FG-SYNDROME MAPS IN THE XQ12-Q21.31 REGION, American journal of medical genetics, 73(1), 1997, pp. 87-90
A C2055T TRANSITION IN EXON-8 OF THE ATP7A GENE IS ASSOCIATED WITH EXON SKIPPING IN AN OCCIPITAL HORN SYNDROME FAMILY
Authors: RONCE N MOIZARD MP ROBB L TOUTAIN A VILLARD L MORAINE C
Citation: N. Ronce et al., A C2055T TRANSITION IN EXON-8 OF THE ATP7A GENE IS ASSOCIATED WITH EXON SKIPPING IN AN OCCIPITAL HORN SYNDROME FAMILY, American journal of human genetics, 61(1), 1997, pp. 233-238
PHYSICAL MAPPING OF THE BREAKPOINTS OF AN X-CHROMOSOME PARACENTRIC INVERSION INV(X) (Q11Q28) WHICH COSEGRATES WITH THE FG SYNDROME IN A FRENCH FAMILY
Authors: BRIAULT S VILLARD L ODENT S LUCAS J RONCE N TOUTAIN A GUICHET A LEMERRER M TURLEAU C MUNNICH A FONTES M MORAINE CL
Citation: S. Briault et al., PHYSICAL MAPPING OF THE BREAKPOINTS OF AN X-CHROMOSOME PARACENTRIC INVERSION INV(X) (Q11Q28) WHICH COSEGRATES WITH THE FG SYNDROME IN A FRENCH FAMILY, American journal of medical genetics, 64(1), 1996, pp. 20-20
X-LINKED MENTAL-RETARDATION WITH NEONATAL HYPOTONIA IN A FRENCH FAMILY (MRX15) - GENE ASSIGNMENT TO XP11.22-XP21.1
Authors: RAYNAUD M GENDROT C DESSAY B MONCLA A AYRAULT AD MOIZARD MP TOUTAIN A BRIAULT S VILLARD L RONCE N MORAINE C
Citation: M. Raynaud et al., X-LINKED MENTAL-RETARDATION WITH NEONATAL HYPOTONIA IN A FRENCH FAMILY (MRX15) - GENE ASSIGNMENT TO XP11.22-XP21.1, American journal of medical genetics, 64(1), 1996, pp. 97-106
X-LINKED MENTAL-RETARDATION EXHIBITING LINKAGE TO DXS255 AND PGKP1 - A NEW MRX FAMILY (MRX14) WITH LOCALIZATION IN THE PERICENTROMERIC REGION
Authors: GENDROT C RONCE N TOUTAIN A MOIZARD MP MUH JP RAYNAUD M DOURLENS J BRIAULT S MORAINE C
Citation: C. Gendrot et al., X-LINKED MENTAL-RETARDATION EXHIBITING LINKAGE TO DXS255 AND PGKP1 - A NEW MRX FAMILY (MRX14) WITH LOCALIZATION IN THE PERICENTROMERIC REGION, Clinical genetics, 45(3), 1994, pp. 145-153
X-LINKED ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME - LINKAGE ANALYSIS IN A NEW FAMILY FURTHER SUPPORTS LOCALIZATION IN PROXIMAL XQ/
Authors: HOUDAYER C TOUTAIN A RONCE N LEFORT G SARDA P TAIB J BRIAULT S LAMBERT JC MORAINE C
Citation: C. Houdayer et al., X-LINKED ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME - LINKAGE ANALYSIS IN A NEW FAMILY FURTHER SUPPORTS LOCALIZATION IN PROXIMAL XQ/, Annales de genetique, 36(4), 1993, pp. 194-199
Risultati: 1-9 |