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Results: 1-19 |
Results: 19
A NOVEL HOMEOBOX GENE PITX3 IS MUTATED IN FAMILIES WITH AUTOSOMAL-DOMINANT CATARACTS AND ASMD
Authors: SEMINA EV FERRELL RE MINTZHITTNER HA BITOUN P ALWARD WLM REITER RS FUNKHAUSER C DAACKHIRSCH S MURRAY JC
Citation: Ev. Semina et al., A NOVEL HOMEOBOX GENE PITX3 IS MUTATED IN FAMILIES WITH AUTOSOMAL-DOMINANT CATARACTS AND ASMD, Nature genetics, 19(2), 1998, pp. 167-170
MUTATIONS IN PITX3 - A NOVEL HOMEOBOX TRANSCRIPTION FACTOR GENE HOMOLOGOUS TO RIEG1 CAUSE DOMINANT CATARACTS AND GLAUCOMA
Authors: BITOUN P SEMINA E FERRELL RE MINTZHITTNER HA GAUDELUS J MURRAY JC
Citation: P. Bitoun et al., MUTATIONS IN PITX3 - A NOVEL HOMEOBOX TRANSCRIPTION FACTOR GENE HOMOLOGOUS TO RIEG1 CAUSE DOMINANT CATARACTS AND GLAUCOMA, European journal of human genetics, 6, 1998, pp. 401-401
DRES93, A NOVEL HOMEODOMAIN-CONTAINING CDNA SELECTIVELY EXPRESSED IN THE DEVELOPING RETINA IS A CANDIDATE FOR HUMAN EYE MALFORMATIONS
Authors: BARBIERI AM BULFONE A MARCHITIELLO A MUNIER F BITOUN P SCHORDERET DF BORSANI G BALLABIO A BANFI S
Citation: Am. Barbieri et al., DRES93, A NOVEL HOMEODOMAIN-CONTAINING CDNA SELECTIVELY EXPRESSED IN THE DEVELOPING RETINA IS A CANDIDATE FOR HUMAN EYE MALFORMATIONS, European journal of human genetics, 6, 1998, pp. 4132-4132
FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS)
Authors: DENDUNNEN JT KRAAYENBRINK T VANSCHOONEVELD M VANDEVOSSE E DEJONG PTVM TENBRINK JB SCHUURMAN E TIJMES N VANOMMEN GJB BERGEN AAB ANDOLFI G MONTINI E LI Y OUDET C BOLZ H KAPLAN J ORTH U GAL A HANAUER A BARDELLI AM AYUSO C DIAZ FJ BITOUN P VENTRUTO V BALLABIO A FRANCO B HIRIYANNA KT BINGHAM EL MCHENRY C PAWAR H COATS C DARGA T RICHARDS JE SIEVING PA HUOPANIEMI L RANTALA A ROSENBERG T DAHL N WRIGHT A DELACHAPELLE A ALITALO T LENZNER S BRUNNER B FEIL S NIESLER B SCHULZ U PINCKERS A BLANKENNAGEL A RUETHER K KELLNER U RAPPOLD G ROPERS HH KALSCHEUER V BERGER W TRUMP D WALPOLE SM NICOLAOU A GAYTHOR SA PIMENIDES D GEORGE NDL MOORE UT YATES JRW
Citation: Jt. Dendunnen et al., FUNCTIONAL IMPLICATIONS OF THE SPECTRUM OF MUTATIONS FOUND IN 234 CASES WITH X-LINKED JUVENILE RETINOSCHISIS (XLRS), Human molecular genetics (Print), 7(7), 1998, pp. 1185-1192
PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE
Authors: DENOYELLE F WEIL D MAW MA WILCOX SA LENCH NJ ALLENPOWELL DR OSBORN AH DAHL HHM MIDDLETON A HOUSEMAN MJ DODE C MARLIN S BOULILAELGGAIED A GRATI M AYADI H BENARAB S BITOUN P LINAGRANADE G GODET J MUSTAPHA M LOISELET J ELZIR E AUBOIS A JOANNARD A LEVILLIERS J GARABEDIAN EN MUELLER RF GARDNER RJM PETIT C
Citation: F. Denoyelle et al., PRELINGUAL DEAFNESS - HIGH PREVALENCE OF A 30DELG MUTATION IN THE CONNEXIN 26 GENE, Human molecular genetics, 6(12), 1997, pp. 2173-2177
PROGRESS IN RIEGER-SYNDROME GENES SEARCH AND MUTATION SCREENING
Authors: SEMINA EV REITER R ALWARD WLM BITOUN P MURRAY JC
Citation: Ev. Semina et al., PROGRESS IN RIEGER-SYNDROME GENES SEARCH AND MUTATION SCREENING, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3725-3725
THICKENED EAR LOBES DIAGNOSTIC OF AUTOSOMAL-DOMINANT CONDUCTIVE HEARING-LOSS - FURTHER DELINEATION OF THE ESCHER-SYNDROME
Authors: BITOUN P FAYAD Y BENZACKEN B GAUDELUS J
Citation: P. Bitoun et al., THICKENED EAR LOBES DIAGNOSTIC OF AUTOSOMAL-DOMINANT CONDUCTIVE HEARING-LOSS - FURTHER DELINEATION OF THE ESCHER-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 510-510
BILATERAL SEVERE MICROPHTHALMOS, PULMONARY HYPOPLASIA AND DIAPHRAGMATIC-HERNIA - A NON LETHAL CASE AND FURTHER DELINEATION OF THE MATTHEW-WOOD-SYNDROME
Authors: GAUDELUS J MURRAY JC BITOUN P
Citation: J. Gaudelus et al., BILATERAL SEVERE MICROPHTHALMOS, PULMONARY HYPOPLASIA AND DIAPHRAGMATIC-HERNIA - A NON LETHAL CASE AND FURTHER DELINEATION OF THE MATTHEW-WOOD-SYNDROME, American journal of human genetics, 61(4), 1997, pp. 872-872
CHARACTERIZATION OF THE PITX REIG HOMEOBOX-CONTAINING GENE FAMILY ANDITS INVOLVEMENT IN THE FORMATION OF ANTERIOR EYE STRUCTURES/
Authors: SEMINA EV REITER R ALWARD WLM BITOUN P FERRELL R DAACKHIRSCH S WISE M FUNKHAUSER CD NISHIMURA CJ LUDWIG B MURRAY JC
Citation: Ev. Semina et al., CHARACTERIZATION OF THE PITX REIG HOMEOBOX-CONTAINING GENE FAMILY ANDITS INVOLVEMENT IN THE FORMATION OF ANTERIOR EYE STRUCTURES/, American journal of human genetics, 61(4), 1997, pp. 2027-2027
CLONING AND CHARACTERIZATION OF A NOVEL BICOID-RELATED HOMEOBOX TRANSCRIPTION FACTOR GENE, RIEG, INVOLVED IN RIEGER SYNDROME
Authors: SEMINA EV REITER R LEYSENS NJ ALWARD WLM SMALL KW DATSON NA SIEGELBARTELT J BIERKENELSON D BITOUN P ZABEL BU CAREY JC MURRAY JC
Citation: Ev. Semina et al., CLONING AND CHARACTERIZATION OF A NOVEL BICOID-RELATED HOMEOBOX TRANSCRIPTION FACTOR GENE, RIEG, INVOLVED IN RIEGER SYNDROME, Nature genetics, 14(4), 1996, pp. 392-399
ABOUT THE FRENCH-LANGUAGE BREAST-FEEDING LITERATURE
Authors: BITOUN P
Citation: P. Bitoun, ABOUT THE FRENCH-LANGUAGE BREAST-FEEDING LITERATURE, Journal of tropical pediatrics, 42(3), 1996, pp. 183-184
EXCLUSION OF EPIDERMAL GROWTH-FACTOR AND HIGH-RESOLUTION PHYSICAL MAPPING ACROSS THE RIEGER SYNDROME LOCUS
Authors: SEMINA EV DATSON NA LEYSENS NJ ZABEL BU CAREY JC BELL GI BITOUN P LINDGREN C STEVENSON T FRANTS RR VANOMMEN GJ MURRAY JC
Citation: Ev. Semina et al., EXCLUSION OF EPIDERMAL GROWTH-FACTOR AND HIGH-RESOLUTION PHYSICAL MAPPING ACROSS THE RIEGER SYNDROME LOCUS, American journal of human genetics, 59(6), 1996, pp. 1288-1296
DIFFUSE SEVERE DIGESTIVE ANGIODYSPLASIA IN BERNARD-SOULIER SYNDROME -IMPROVEMENT OF BLEEDING BY OESTROPROGESTATIVE THERAPY
Authors: BELLUCCI S ZINI JM BITOUN P DUPUY E DROUET L TOBELEM G CAEN JP
Citation: S. Bellucci et al., DIFFUSE SEVERE DIGESTIVE ANGIODYSPLASIA IN BERNARD-SOULIER SYNDROME -IMPROVEMENT OF BLEEDING BY OESTROPROGESTATIVE THERAPY, Thrombosis and haemostasis, 74(6), 1995, pp. 1610-1612
GLAUCOMA WITH A LARSEN-LIKE SYNDROME
Authors: BITOUN P
Citation: P. Bitoun, GLAUCOMA WITH A LARSEN-LIKE SYNDROME, Ophthalmic genetics, 15(3-4), 1994, pp. 133-140
WOLFRAM-SYNDROME - A REPORT OF 4 CASES AND REVIEW OF THE LITERATURE
Authors: BITOUN P
Citation: P. Bitoun, WOLFRAM-SYNDROME - A REPORT OF 4 CASES AND REVIEW OF THE LITERATURE, Ophthalmic genetics, 15(2), 1994, pp. 77-85
GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-1 IN FRENCH FAMILIES
Authors: LARGETPIET D GERBER S BONNEAU D ROZET JM MARC S GHAZI I DUFIER JL DAVID A BITOUN P WEISSENBACH J MUNNICH A KAPLAN J
Citation: D. Largetpiet et al., GENETIC-HETEROGENEITY OF USHER SYNDROME TYPE-1 IN FRENCH FAMILIES, Genomics, 21(1), 1994, pp. 138-143
OPTIC ATROPHY, MICROCEPHALY, MENTAL-RETARDATION AND MOSAIC VARIEGATEDANEUPLOIDY - A HUMAN MITOTIC MUTATION
Authors: BITOUN P MARTINPONT B TAMBOISE E GAUDELUS J
Citation: P. Bitoun et al., OPTIC ATROPHY, MICROCEPHALY, MENTAL-RETARDATION AND MOSAIC VARIEGATEDANEUPLOIDY - A HUMAN MITOTIC MUTATION, Annales de genetique, 37(2), 1994, pp. 75-77
THE NATURE OF ECOLOGY
Authors: ALPHANDERY P BITOUN P DUPONT Y
Citation: P. Alphandery et al., THE NATURE OF ECOLOGY, Les Temps modernes, 49(560), 1993, pp. 96-113
COMBINED MAPPING APPROACHES TO RIEGER SYNDROME
Authors: MURRAY J ELSHANTI H LINDGREN C LEYSENS N PATIL S ZABEL B ALWARD W STEVENSON T BITOUN P BUETOW K
Citation: J. Murray et al., COMBINED MAPPING APPROACHES TO RIEGER SYNDROME, American journal of human genetics, 53(3), 1993, pp. 141-141
Risultati: 1-19 |