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Results: 1-25/31
Authors:
BELIN V
CUSIN V
VIOT G
GIRLICH D
TOUTAIN A
MONCLA A
VEKEMANS M
LEMERRER M
MUNNICH A
CORMIERDAIRE V
Citation: V. Belin et al., SHOX MUTATIONS IN DYSCHONDROSTEOSIS (LERI-WEILL-SYNDROME), Nature genetics, 19(1), 1998, pp. 67-69
Authors:
VERLOES A
TOUTAIN A
LEMERRER M
Citation: A. Verloes et al., MICROCEPHALIC OSTEODYSPLASTIC DWARFISM TYPE-2, European journal of human genetics, 6, 1998, pp. 104-104
Authors:
STEC I
DENDUNNEN JT
WRIGHT TJ
DEBOER PAJ
VANHAERINGEN A
MOORMAN AFM
ALTHERR MR
DONNAI D
CROQUETTE MF
TOUTAIN A
VANOMMEN GJB
Citation: I. Stec et al., ANALYSIS OF A DEVELOPMENTAL GENE DELETED IN PATIENTS WITH WOLF-HIRSCHHORN-SYNDROME, European journal of human genetics, 6, 1998, pp. 6040-6040
Authors:
SIGAUDY S
TOUTAIN A
MONCLA A
FREDOUILLE C
BOURLIERE B
AYME S
PHILIP N
Citation: S. Sigaudy et al., MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TAYBI-LINDER TYPE -REPORT OF 4 CASES AND REVIEW OF THE LITERATURE, American journal of medical genetics, 80(1), 1998, pp. 16-24
Authors:
MOIZARD MP
BILLARD C
TOUTAIN A
BERRET F
MARMIN N
MORAINE C
Citation: Mp. Moizard et al., ARE DP71 AND DP140 BRAIN DYSTROPHIN ISOFORMS RELATED TO COGNITIVE IMPAIRMENT IN DUCHENNE MUSCULAR-DYSTROPHY, American journal of medical genetics, 80(1), 1998, pp. 32-41
Authors:
ODENT S
LEMAREC B
TOUTAIN A
DAVID A
VIGNERON J
TREGUIER C
JOUAN H
MILON J
FRYNS JP
VERLOES A
Citation: S. Odent et al., CENTRAL-NERVOUS-SYSTEM MALFORMATIONS AND EARLY END-STAGE RENAL-DISEASE IN ORO-FACIO-DIGITAL SYNDROME TYPE-I - A REVIEW, American journal of medical genetics, 75(4), 1998, pp. 389-394
Authors:
MERLINI L
BAROIS A
DEMONTE A
ECHENNE B
GALLANO P
JARRE L
KALAYDJIEVA L
LEVYGOMES A
NAVARRO C
TOUTAIN A
TURNEV I
URTIZBEREA A
VALLAT JM
VOIT T
WARTER JM
KAPLAN JC
Citation: L. Merlini et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C WITH C283Y MUTATION IN GYPSIES - CHARACTERIZATION OF THE CLINICAL PHENOTYPE, Neurology, 50(4), 1998, pp. 3020-3020
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
Authors:
DESCAMPS P
JOURDAIN O
PAILLET C
TOUTAIN A
GUICHET A
POURCELOT D
GOLD F
CASTIEL M
BODY G
Citation: P. Descamps et al., ETIOLOGY, PROGNOSIS AND MANAGEMENT OF NUCHAL CYSTIC HYGROMA - 25 NEW CASES AND LITERATURE-REVIEW, European journal of obstetrics, gynecology, and reproductive biology, 71(1), 1997, pp. 3-10
Authors:
TOUTAIN A
AYRAULT AD
MORAINE C
Citation: A. Toutain et al., MENTAL-RETARDATION IN NANCE-HORAN-SYNDROME - CLINICAL AND NEUROPSYCHOLOGICAL ASSESSMENT IN 4 FAMILIES, American journal of medical genetics, 71(3), 1997, pp. 305-314
Authors:
DEBRUS S
TUFFERY S
MATSUOKA R
GALAL O
SARDA P
SAUER U
BOZIO A
TANMAN B
TOUTAIN A
CLAUSTRES M
LEPASLIER D
BOUVAGNET P
Citation: S. Debrus et al., LACK OF EVIDENCE FOR CONNEXIN-43 GENE-MUTATIONS IN HUMAN AUTOSOMAL RECESSIVE LATERALIZATION DEFECTS, Journal of Molecular and Cellular Cardiology, 29(5), 1997, pp. 1423-1431
Authors:
EDERY P
PEDRONNO S
TOUTAIN A
SANNIER N
LYONNET S
MUNNICH A
VEKEMANS M
DEBLOIS MC
Citation: P. Edery et al., TETRASOMY 9P - PARENTAL ORIGIN AND MECHANISM OF THE ISOCHROMOSOME 9P IN TETRASOMY 9P, American journal of human genetics, 61(4), 1997, pp. 699-699
Authors:
STEC I
DENDUNNEN JT
VANHAERINGEN A
CROQUETTE MF
DONNAI D
TOUTAIN A
MOORMAN AFM
DEBOER PAJ
VANOMMEN GJB
Citation: I. Stec et al., A GENOME-SEQUENCE BASED APPROACH TO COMPUTATIONAL AND EXPERIMENTAL CANDIDATE GENE ANALYSIS OF WOLF-HIRSCHHORN-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 1415-1415
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
Authors:
PICCOLO F
JEANPIERRE M
LETURCQ F
DODE C
AZIBI K
TOUTAIN A
MERLINI L
JARRE L
NAVARRO C
KRISHNAMOORTHY R
TOME FMS
URTIZBEREA JA
BECKMANN JS
CAMPBELL KP
KAPLAN JC
Citation: F. Piccolo et al., A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA, Human molecular genetics, 5(12), 1996, pp. 2019-2022
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
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
Authors:
VILLARD L
TOUTAIN A
LOSSI AM
GECZ J
HOUDAYER C
MORAINE C
FONTES M
Citation: L. Villard et al., SPLICING MUTATION IN THE ATR-X GENE CAN LEAD TO A DYSMORPHIC MENTAL-RETARDATION PHENOTYPE WITHOUT ALPHA-THALASSEMIA, American journal of human genetics, 58(3), 1996, pp. 499-505
Authors:
GUICHET A
BRIAULT S
TOUTAIN A
PAILLET C
DESCAMPS P
PIERRE F
BODY G
MORAINE CL
Citation: A. Guichet et al., PRENATAL-DIAGNOSIS OF TRISOMY-8 MOSAICISM IN CVS AFTER ABNORMAL ULTRASOUND FINDINGS AT 12 WEEKS, Prenatal diagnosis, 15(8), 1995, pp. 769-772
Authors:
VERLOES A
DAVID A
ODENT S
TOUTAIN A
ANDRE MJ
LUCAS J
LEMAREC B
Citation: A. Verloes et al., OPITZ GBBB SYNDROME - CHROMOSOMAL EVIDENCE OF AN X-LINKED FORM, American journal of medical genetics, 59(1), 1995, pp. 123-128
Authors:
SAUGIERVEBER P
MUNNICH A
LYONNET S
TOUTAIN A
MORAINE C
PIUSSAN C
MATHIEU M
GIBBONS RJ
Citation: P. Saugierveber et al., LUMPING JUBERG-MARSIDI SYNDROME AND X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME, American journal of medical genetics, 55(3), 1995, pp. 300-301
Authors:
BONNARD C
TOUTAIN A
DECOURTIVRON B
GLORION B
Citation: C. Bonnard et al., MYOPATHIES - CLASSIFICATION, DIAGNOSIS AN D CURRENT MANAGEMENT, La Semaine des hopitaux de Paris, 71(7-8), 1995, pp. 232-247
Authors:
JEANPIERRE M
BECKMANN JS
AZIBI K
ELKERCH F
LETURCQ F
RECAN D
MERLINI L
TOUTAIN A
BONNEAU D
TOME FMS
FARDEAU M
KAPLAN JC
DODE C
Citation: M. Jeanpierre et al., REFINED MAPPING OF THE LGMD2C LOCUS TO A 1-CENTIMORGAN INTERVAL, American journal of human genetics, 57(4), 1995, pp. 1114-1114
Authors:
LEMERRER M
LEGEAIMALLET L
JEANNIN PM
HORSTHEMKE B
SCHINZEL A
PLAUCHU H
TOUTAIN A
ACHARD F
MUNNICH A
MAROTEAUX P
Citation: M. Lemerrer et al., A GENE FOR HEREDITARY MULTIPLE EXOSTOSES MAPS TO CHROMOSOME 19P, Human molecular genetics, 3(5), 1994, pp. 717-722
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