Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Journal of Clinical Investigation

Volumn 126, Issue 2, 2016, Pages 762-778

  Bayram, Yavuz ^a   Karaca, Ender ^a   Akdemir, Zeynep Coban ^a   Yilmaz, Elif Ozdamar ^b   Tayfun, Gulsen Akay ^c   Aydin, Hatip ^d   Torun, Deniz ^e   Bozdogan, Sevcan Tug ^f   Gezdirici, Alper ^g   Isikay, Sedat ^h   Atik, Mehmed M ^a   Gambin, Tomasz ^a   Harel, Tamar ^a   El Hattab, Ayman W ⁱ   Charng, Wu Lin ^a   Pehlivan, Davut ^a   Jhangiani, Shalini N ^a   Muzny, Donna M ^a   Karaman, Ali ^j   Celik, Tamer ^k   Yuregir, Ozge Ozalp ^l   Yildirim, Timur ^m   Bayhan, Ilhan A ^m   Boerwinkle, Eric ^a,n   Gibbs, Richard A ^a   Elcioglu, Nursel ^c   Tuysuz, Beyhan ^b   Lupski, James R ^a,o   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c MARMARA UNIVERSITY   (Turkey)

^d NAMIK KEMAL UNIVERSITY   (Turkey)

^e GULHANE SCHOOL OF MEDICINE   (Turkey)

^f MERSIN UNIVERSITY   (Turkey)

^g Kanuni Sultan Suleyman Training and Research Hospital   (Turkey)

^h KAHRAMANMARAS SUTCU IMAM UNIVERSITY   (Turkey)

ⁱ TAWAM HOSPITAL   (United Arab Emirates)

^j Zeynep Kamil Maternity and Children's Disease Training and Research State Hospital   (Turkey)

^k ADANA NUMUNE EDUCATION AND RESEARCH HOSPITAL   (Turkey)

^l Adana Numune Training and Research Hospital   (Turkey)

^m Baltalimani Bone Diseases Training and Research Hospital   (Turkey)

ⁿ UNIVERSITY OF TEXAS   (United States)

^o TEXAS CHILDREN S HOSPITAL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN CONVERTING ENZYME; FIBRILLIN; FIBRILLIN 3; MYOSIN BINDING PROTEIN C; NICOTINIC RECEPTOR; PLECKSTRIN; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; ARTICLE; COPY NUMBER VARIATION; EXOME; FAMILY; FEMALE; GENE SEQUENCE; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TARGETING; TURK (PEOPLE); CLINICAL TRIAL; GENETICS; GENOME-WIDE ASSOCIATION STUDY; PATHOLOGY; TURKEY;

ARTHROGRYPOSIS; EXOME; FAMILY; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; TURKEY;

EID: 84956873601     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI84457     Document Type: Article

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