Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Nature Genetics

Volumn 33, Issue 4, 2003, Pages 463-465

  Dodé, Catherine ^a   Levilliers, Jacqueline ^b   Dupont, Jean Michel ^a   De Paepe, Anne ^c   Le Dû, Nathalie ^a   Soussi Yanicostas, Nadia ^b   Coimbra, Roney S ^b   Delmaghani, Sedigheh ^b   Compain Nouaille, Sylvie ^b   Baverel, Françoise ^a   Pêcheux, Christophe ^a   Le Tessier, Dominique ^a   Cruaud, Corinne ^d   Delpech, Marc ^a   Speleman, Frank ^c   Vermeulen, Stefan ^c   Amalfitano, Andrea ^e   Bachelot, Yvan ^f   Bouchard, Philippe ^g   Cabrol, Sylvie ^h   Carel, Jean Claude ⁱ   Van de Waal, Henriette Delemarre ^j   Goulet Salmon, Barbara ^k   Kottler, Marie Laure ^l   Richard, Odile ^m   Sanchez Franco, Franco ⁿ   Saura, Robert ^o   Young, Jacques ^p   Petit, Christine ^b   Hardelin, Jean Pierre ^b   more..

^a Hôpital Cochin ^*  (France)

^b INSTITUT PASTEUR   (France)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f HÔPITAL MICHALLON   (France)

^g HÔPITAL SAINT ANTOINE   (France)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ HÔPITAL SAINT VINCENT DE PAUL   (France)

^j VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^k Centre Hospitalier d'Alençon   (France)

^l CHU Clemenceau   (France)

^m HÔPITAL NORD   (France)

ⁿ INSTITUTO DE SALUD CARLOS III   (Spain)

^o HÔPITAL PELLEGRIN   (France)

^p BICÊTRE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANOSMIN 1; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 1; GENE PRODUCT; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 8P; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; FGFR1 GENE; GENE; GENE MUTATION; HUMAN; KALLMANN SYNDROME; PRIORITY JOURNAL; SEX DIFFERENCE; SIGNAL TRANSDUCTION; X CHROMOSOME INACTIVATION;

CELL ADHESION MOLECULES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; CHROMOSOMES, HUMAN, X; EXONS; EXTRACELLULAR MATRIX; EXTRACELLULAR MATRIX PROTEINS; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; INTRONS; KALLMANN SYNDROME; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTORS, FIBROBLAST GROWTH FACTOR; SEX FACTORS; SIGNAL TRANSDUCTION;

EID: 20244366799     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1122     Document Type: Article

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