Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation

New England Journal of Medicine

Volumn 371, Issue 25, 2014, Pages 2363-2374

  Trivellin, G ^a   Daly, A F ^f   Faucz, F R ^a,i   Yuan, B ^k   Rostomyan, L ^f   Larco, D O ^e   Schernthaner Reiter, M H ^a   Szarek, E ^a   Leal, L F ^a   Caberg, J H ^f   Castermans, E ^f   Villa, C ^f,l,m   Dimopoulos, A ^a   Chittiboina, P ^b   Xekouki, P ^a   Shah, N ^p   Metzger, D ^q   Lysy, P A ^h   Ferrante, E ^s   Strebkova, N ^u   Mazerkina, N ^v   Zatelli, M C ^j,t   Lodish, M ^a   Horvath, A ^a,w   Bertollo De Alexandre, R ^a,i   Manning, A D ^a   Levy, I ^a,r   Keil, M F ^a   De La Luz Sierra, M ^a   Palmeira, L ^g   Coppieters, W ^g   Georges, M ^g   Naves, L A ^j   Jamar, M ^f   Bours, V ^f   Wu, T J ^e   Choong, C S ^y   Bertherat, J ^m   Chanson, P ⁿ   Kamenicky, P ⁿ   Farrell, W E ^z   Barlier, A ^o   Quezado, M ^c   Bjelobaba, I ^a   Stojilkovic, S S ^a   Wess, J ^d   Costanzi, S ^x   Liu, P ^k   Lupski, J R ^k   Beckers, A ^f   Stratakis, C A ^a   more..

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^f UNIVERSITY OF LIÈGE   (Belgium)

^g UNIVERSITY OF LIÈGE   (Belgium)

^h UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

ⁱ PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^j UNIVERSITY OF BRASILIA   (Brazil)

^k BAYLOR COLLEGE OF MEDICINE   (United States)

^l FOCH HOSPITAL   (France)

^m INSERM   (France)

ⁿ Service de chirurgie orthopédique et traumatologique Hôpitaux universitaires Paris Sud   (France)

^o University of Mediterranée   (France)

^p KEM HOSPITAL   (India)

^q BC CHILDREN S HOSPITAL   (Canada)

^r HOSPITAL FOR SICK CHILDREN   (Canada)

^s FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^t UNIVERSITY OF FERRARA   (Italy)

^u ENDOCRINOLOGY RESEARCH CENTRE   (Russian Federation)

^v BURDENKO NEUROSURGICAL INSTITUTE   (Russian Federation)

^w GEORGE WASHINGTON UNIVERSITY   (United States)

^x AMERICAN UNIVERSITY   (United States)

^y UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^z KEELE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 101; GROWTH HORMONE; UNCLASSIFIED DRUG; GPR101 PROTEIN, HUMAN; HUMAN GROWTH HORMONE;

ACROMEGALY; ADOLESCENT; ADULT; ANIMAL CELL; ARTICLE; CELL PROLIFERATION; CHILD; CHILDHOOD; CHROMOSOME MICRODUPLICATION; CHROMOSOME REPLICATION; CHROMOSOME XQ26; CONTROLLED STUDY; FEMALE; GENE DUPLICATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; GENETIC TRANSFECTION; GENOME SIZE; GH3 CELL LINE; GIGANTISM; GPR101 GENE; GROWTH HORMONE RELEASE; HORMONE SYNTHESIS; HUMAN; HYPOPHYSIS DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NONHUMAN; ONSET AGE; RAT; SEQUENCE ANALYSIS; SEX CHROMOSOME; STRUCTURAL CHROMOSOME ABERRATION; X CHROMOSOME LINKED DISORDER; CHEMISTRY; CHROMOSOME DUPLICATION; GENETICS; INFANT; MUTATION; PHENOTYPE; PRESCHOOL CHILD; PROTEIN CONFORMATION; SECRETION (PROCESS); X CHROMOSOME;

ACROMEGALY; ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; FEMALE; GIGANTISM; HUMAN GROWTH HORMONE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; RECEPTORS, G-PROTEIN-COUPLED;

EID: 84919360657     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1408028     Document Type: Article

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