Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism

American Journal of Human Genetics

Volumn 92, Issue 5, 2013, Pages 725-743

  Miraoui, Hichem ^a,b   Dwyer, Andrew A ^a,b   Sykiotis, Gerasimos P ^b,c   Plummer, Lacey ^b   Chung, Wilson ^d   Feng, Bihua ^b   Beenken, Andrew ^e   Clarke, Jeff ^f   Pers, Tune H ^g,h,i   Dworzynski, Piotr ^g   Keefe, Kimberley ^b   Niedziela, Marek ^j   Raivio, Taneli ^k   Crowley, William F ^b   Seminara, Stephanie B ^b   Quinton, Richard ^l   Hughes, Virginia A ^a,b   Kumanov, Philip ^m   Young, Jacques ⁿ   Yialamas, Maria A ^o   Hall, Janet E ^b   Van Vliet, Guy ^p   Chanoine, Jean Pierre ^q   Rubenstein, John ^f   Mohammadi, Moosa ^e   Tsai, Pei San ^d   Sidis, Yisrael ^a,b   Lage, Kasper ^b,g,h,r   Pitteloud, Nelly ^a,b   more..

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF PATRAS   (Greece)

^d UNIVERSITY OF COLORADO   (United States)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g TECHNICAL UNIVERSITY OF DENMARK   (Denmark)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^k UNIVERSITY OF HELSINKI   (Finland)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

^m MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

ⁿ BICÊTRE HOSPITAL   (France)

^o BRIGHAM AND WOMEN S HOSPITAL   (United States)

^p UNIVERSITY OF MONTREAL   (Canada)

^q UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^r University of Copenhagen   (Denmark)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOME;

AMINO ACID SUBSTITUTION; ANIMAL TISSUE; ARTICLE; BIOINFORMATICS; CONTROLLED STUDY; DUSP6 GENE; EMBRYO; FEMALE; FGF17 GENE; FLRT3 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; GENOTYPE; HEARING IMPAIRMENT; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; IL17RD GENE; KALLMANN SYNDROME; MAJOR CLINICAL STUDY; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; SCORING SYSTEM; SPRY4 GENE; VALIDITY;

EID: 84877260745     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.008     Document Type: Article

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