ProfileOfResearchers

Identified 4

1

TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton Smith; Sylvain Hanein; Eduardo Silva ; Margaux Serey; Valerie Serre; Xavier Gerard; Clarisse Baumann; Ghislaine Plessis; Benedicte Demeer; Lionel Bretillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean Michel Rozet; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 92, ISSUE: 2

INDEXED IN:

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2

TITLE: Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain Full Text
AUTHORS: Partha Sen; Yaping P Yang; Colby Navarro; Iris Silva; Przemyslaw Szafranski; Katarzyna E Kolodziejska; Avinash V Dharmadhikari; Hasnaa Mostafa; Harry Kozakewich; Debra Kearney; John B Cahill; Merrissa Whitt; Masha Bilic; Linda Margraf; Adrian Charles; Jack Goldblatt; Kathleen Gibson; Patrick E Lantz; Julian J Garvin; John Petty; Zeina Kiblawi; Craig Zuppan; Allyn McConkie Rosell; Marie T McDonald; Stacey L Peterson Carmichael; Jane T Gaede; Binoy Shivanna; Deborah Schady; Philippe S Friedlich; Stephen R Hays; Irene Valenzuela Palafoll; Ulrike Siebers Renelt; Axel Bohring; Laura S Finn; Joseph R Siebert; Csaba Galambos; Lananh Nguyen; Melissa Riley; Nicolas Chassaing; Adeline Vigouroux; Gustavo Rocha; Susana Fernandes; Jane Brumbaugh; Kari Roberts; Luk, HM; Ivan F M Lo; Stephen Lam; Romana Gerychova; Marta Jezova; Iveta Valaskova; Florence Fellmann; Katayoun Afshar; Eric Giannoni; Vincent Muhlethaler; Jinlong L Liang; Jacques S Beckmann; Janet Lioy; Hitesh Deshmukh; Lakshmi Srinivasan; Daniel T Swarr; Melissa Sloman; Charles Shaw Smith; Rosa Laura van Loon; Cecilia Hagman; Yves Sznajer; Catherine Barrea; Christine Galant; Thierry Detaille; Jennifer A Wambach; Sessions S Cole; Aaron Hamvas; Lawrence S Prince; Karin E M Diderich; Alice S Brooks; Robert M Verdijk; Hari Ravindranathan; Ella Sugo; David Mowat; Michael L Baker; Claire Langston; Stephen Welty; Pawel Stankiewicz; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 6

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3

TITLE: ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
AUTHORS: Lucas Fares-Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Sylvain Hanein; Eduardo Silva; Margaux Serey; Valérie Serre; Xavier Gérard; Clarisse Baumann; Ghislaine Plessis; Bénédicte Demeer; Lionel Brétillon; Christine Bole; Patrick Nitschke; Arnold Munnich; Stanislas Lyonnet; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet; ...More
PUBLISHED: 2013, SOURCE: The American Journal of Human Genetics, VOLUME: 92, ISSUE: 2

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4

TITLE: Spectrum of Mutations in the Renin-Angiotensin System Genes in Autosomal Recessive Renal Tubular Dysgenesis Full Text
AUTHORS: Olivier Gribouval; Vincent Moriniere; Audrey Pawtowski; Christelle Arrondel; Satu Leena Sallinen; Carola Saloranta; Carol Clericuzio; Geraldine Viot; Julia Tantau; Sophie Blesson; Sylvie Cloarec; Marie Christine Machet; David Chitayat; Christelle Thauvin; Nicole Laurent; Julian R Sampson; Jonathan A Bernstein; Alix Clemenson; Fabienne Prieur; Laurent Daniel; Annie Levy Mozziconacci; Katherine Lachlan; Jean Luc Alessandri; Francois Cartault; Jean Pierre Riviere; Nicole Picard; Clarisse Baumann; Anne Lise Delezoide; Maria B Belar Ortega; Nicolas Chassaing; Philippe Labrune; Sui Yu; Helen Firth; Diana Wellesley; Martin Bitzan; Ahmed Alfares; Nancy Braverman; Lotte Krogh; John Tolmie; Harald Gaspar; Berenice Doray; Silvia Majore; Dominique Bonneau; Stephane Triau; Chantal Loirat; Albert David; Deborah Bartholdi; Amir Peleg; Damien Brackman; Rosario Stone; Ralph DeBerardinis; Pierre Corvol; Annie Michaud; Corinne Antignac; Marie Claire Gubler; ...More
PUBLISHED: 2012, SOURCE: HUMAN MUTATION, VOLUME: 33, ISSUE: 2

INDEXED IN:

Scopus

WOS

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