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Results: 1-14 |
Results: 14
COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN)
Authors: MATHIEU M PIUSSAN C THEPOT F GOUGET A LACOMBE D PEDESPAN JM SERVILLE F FONTAN D RUFFIE M NIVELONCHEVALLIER A AMBLARD F CHAUVEAU P MOIROT H CHABROLLE JP CROQUETTE MF TEYSSIER M PLAUCHU H PELISSIER MC GILGENKRANTZ S TURCCAREL C TURLEAU C PRIEUR M LEMERRER M GONZALES M JOYE N TAILLEMITE JL BOUILLIE J ESCHARD C MOTTE J JOURNEL H
Citation: M. Mathieu et al., COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P OR PALLISTER-KILLIAN-SYNDROME (19 FETUSES OR CHILDREN), Annales de genetique, 40(1), 1997, pp. 45-54
X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY (CMTX) - NEW MUTATIONS IN THE CONNEXIN32 GENE
Authors: RESSOT C LATOUR P BLANQUETGROSSARD F STURTZ F DUTHEL S BATTIN J CORBILLON E OLLAGNON E SERVILLE F VANDENBERGHE A DAUTIGNY A PHAMDINH D
Citation: C. Ressot et al., X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY (CMTX) - NEW MUTATIONS IN THE CONNEXIN32 GENE, Human genetics, 98(2), 1996, pp. 172-175
NO EVIDENCE OF GENETIC-HETEROGENEITY IN CROUZON CRANIOFACIAL DYSOSTOSIS
Authors: MA HW LAJEUNIE E LEMERRER M DEPARSEVAL N SERVILLE F WEISSENBACH J MUNNICH A RENIER D
Citation: Hw. Ma et al., NO EVIDENCE OF GENETIC-HETEROGENEITY IN CROUZON CRANIOFACIAL DYSOSTOSIS, Human genetics, 96(6), 1995, pp. 731-735
IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P
Authors: MATHIEU M PIUSSAN C THEPOT F SERVILLE F FONTA D RUFFLER M NIVELONCHEVALLIER A TURCCAREL C CHAUVEAU P MOIROT H CHABROLLE JP MOTTE J ESCHARD C CROQUETTE MF JOURNEL H TURLEAU C GOUGET A PELISSIER MC TEYSSIER M PLAUCHU H AMBLARD F GILGENKRANZ S LEMERRER M PRIEUR M
Citation: M. Mathieu et al., IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVESTUDY OF MOSAIC TETRASOMY 12P, American journal of human genetics, 57(4), 1995, pp. 532-532
A NOVEL MICROSATELLITE DNA MARKER AT LOCUS D7S1870 DETECTS HEMIZYGOSITY IN 75-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME
Authors: GILBERTDUSSARDIER B BONNEAU D GIGAREL N LEMERRER M BONNET D PHILIP N SERVILLE F VERLOES A ROSSI A AYME S WEISSENBACH J MATTEI MG LYONNET S MUNNICH A
Citation: B. Gilbertdussardier et al., A NOVEL MICROSATELLITE DNA MARKER AT LOCUS D7S1870 DETECTS HEMIZYGOSITY IN 75-PERCENT OF PATIENTS WITH WILLIAMS-SYNDROME, American journal of human genetics, 56(2), 1995, pp. 542-544
A GENE FOR HOLT-GRAM SYNDROME MAPS TO THE DISTAL LONG ARM OF CHROMOSOME-12
Authors: BONNET D PELET A LEGEAIMALLET L SIDI D MATHIEU M PARENT P PLAUCHU H SERVILLE F SCHINZEL A WEISSENBACH J KACHANER J MUNNICH A LYONNET S
Citation: D. Bonnet et al., A GENE FOR HOLT-GRAM SYNDROME MAPS TO THE DISTAL LONG ARM OF CHROMOSOME-12, Nature genetics, 6(4), 1994, pp. 405-408
IDENTIFICATION OF A 5' SPLICE-SITE MUTATION IN INTRON-4 OF THE L1CAM GENE IN AN X-LINKED HYDROCEPHALUS FAMILY
Authors: COUCKE P VITS L VANCAMP G SERVILLE F LYONNET S KENWRICK S ROSENTHAL A WEHNERT M MUNNICH A WILLEMS PJ
Citation: P. Coucke et al., IDENTIFICATION OF A 5' SPLICE-SITE MUTATION IN INTRON-4 OF THE L1CAM GENE IN AN X-LINKED HYDROCEPHALUS FAMILY, Human molecular genetics, 3(4), 1994, pp. 671-673
SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER
Authors: TIHY F VOGT N RECAN D MALFOY B LETURCQ F COQUET M SERVILLE F FONTAN D GUILLARD JM KAPLAN JC DUTRILLAUX B LEMIEUX N
Citation: F. Tihy et al., SKEWED INACTIVATION OF AN X-CHROMOSOME DELETED AT THE DYSTROPHIN GENEIN AN ASYMPTOMATIC MOTHER AND HER AFFECTED DAUGHTER, Human genetics, 93(5), 1994, pp. 563-567
A SOMATIC ORIGIN OF HOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS AND ISOCHROMOSOMES
Authors: ROBINSON WP BERNASCONI F BASARAN S YUKSELAPAK M NERI G SERVILLE F BALICEK P HALUZA R FARAH LMS LULECI G SCHINZEL AA
Citation: Wp. Robinson et al., A SOMATIC ORIGIN OF HOMOLOGOUS ROBERTSONIAN TRANSLOCATIONS AND ISOCHROMOSOMES, American journal of human genetics, 54(2), 1994, pp. 290-302
PRENATAL EXCLUSION OF X-LINKED HYDROCEPHALUS STENOSIS OF THE AQUEDUCTOF SYLVIUS SEQUENCE USING CLOSELY LINKED DNA MARKERS
Authors: SERVILLE F BENIT P SAUGIER P VIBERT M ROYER G PELET A CHERY M MUNNICH A LYONNET S
Citation: F. Serville et al., PRENATAL EXCLUSION OF X-LINKED HYDROCEPHALUS STENOSIS OF THE AQUEDUCTOF SYLVIUS SEQUENCE USING CLOSELY LINKED DNA MARKERS, Prenatal diagnosis, 13(6), 1993, pp. 435-439
SPLIT HAND SPLIT FOOT DEFORMITY AND LADD SYNDROME IN A FAMILY - OVERLAP BETWEEN THE EEC AND LADD SYNDROMES
Authors: LACOMBE D SERVILLE F MARCHAND D BATTIN J
Citation: D. Lacombe et al., SPLIT HAND SPLIT FOOT DEFORMITY AND LADD SYNDROME IN A FAMILY - OVERLAP BETWEEN THE EEC AND LADD SYNDROMES, Journal of Medical Genetics, 30(8), 1993, pp. 700-703
COFFIN-LOWRY SYNDROME AND HYPERPROLINEMIA
Authors: LACOMBE D PARROTROULAUD F CASTELL JF SERVILLE F HEHUNSTRE JP BATTIN J
Citation: D. Lacombe et al., COFFIN-LOWRY SYNDROME AND HYPERPROLINEMIA, Archives francaises de pediatrie, 50(6), 1993, pp. 489-492
SYNDROMIC FORM OF CONGENITAL CUTIS LAXA
Authors: LACOMBE D FERRANDO MF BIOULAC P SERVILLE F GIMENEZ M LLANAS B DEMARQUEZ JL TAIEB A BATTIN J
Citation: D. Lacombe et al., SYNDROMIC FORM OF CONGENITAL CUTIS LAXA, American journal of human genetics, 53(3), 1993, pp. 1550-1550
PHENOTYPE DISCORDANCE BETWEEN A HEALTHY MOTHER AND HER DMD-AFFECTED DAUGHTER SHARING THE SAME MOLECULAR DELETION WITHIN THE DYSTROPHIN GENE- EVIDENCE SUPPORTING THE NONRANDOM X INACTIVATION
Authors: TIHY F VOGT N MALFOY B RECAN D LETURCQ F KAPLAN JC COQUET M SERVILLE F GUILLARD JM DUTRILLAUX B RICHER CL LEMIEUX N
Citation: F. Tihy et al., PHENOTYPE DISCORDANCE BETWEEN A HEALTHY MOTHER AND HER DMD-AFFECTED DAUGHTER SHARING THE SAME MOLECULAR DELETION WITHIN THE DYSTROPHIN GENE- EVIDENCE SUPPORTING THE NONRANDOM X INACTIVATION, American journal of human genetics, 53(3), 1993, pp. 1762-1762
Risultati: 1-14 |