Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

Journal of Clinical Investigation

Volumn 127, Issue 5, 2017, Pages 1700-1713

  Buonocore, Federica ^a   Kühnen, Peter ^b   Suntharalingham, Jenifer P ^a   Del Valle, Ignacio ^a   Digweed, Martin ^b   Stachelscheid, Harald ^c   Khajavi, Noushafarin ^b   Didi, Mohammed ^b,d   Brady, Angela F ^e   Blankenstein, Oliver ^b   Procter, Annie M ^f   Dimitri, Paul ^g   Wales, Jerry K H ^h   Ghirri, Paolo ⁱ   Knöbl, Dieter ^j   Strahm, Brigitte ^k   Erlacher, Miriam ^k,l   Wlodarski, Marcin W ^k,l   Chen, Wei ^m,p   Kokai, George K ^d   Anderson, Glenn ⁿ   Morrogh, Deborah ⁿ   Moulding, Dale A ^a   McKee, Shane A ^o   Niemeyer, Charlotte M ^k,l   Grüters, Annette ^b   Achermann, John C ^a   more..

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c BERLIN INSTITUTE OF HEALTH   (Germany)

^d ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^e NORTHWICK PARK HOSPITAL   (United Kingdom)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g UNIVERSITY OF SHEFFIELD   (United Kingdom)

^h UNIVERSITY OF QUEENSLAND   (Australia)

ⁱ UNIVERSITY OF PISA   (Italy)

^j Pediatric Endocrinology   (Germany)

^k UNIVERSITY OF FREIBURG   (Germany)

^l GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^m MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

ⁿ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^o BELFAST CITY HOSPITAL   (United Kingdom)

^p SOUTHERN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME; CHROMOSOME 7Q; CHROMOSOME 7Q21.2; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; LOSS OF FUNCTION MUTATION; MALE; MONOSOMY 7; MUTATOR GENE; MYELODYSPLASTIC SYNDROME; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; PRIORITY JOURNAL; SOMATIC MUTATION; STERILE ALPHA MOTIF DOMAIN CONTAINING PROTEIN 9 GENE; SYSTEMIC DISEASE; TISSUE SPECIFICITY; ADRENAL INSUFFICIENCY; CHROMOSOME 7; CHROMOSOME DELETION; COHORT ANALYSIS; GENETICS; MORTALITY; NEWBORN;

PROTEIN; SAMD9 PROTEIN, HUMAN;

ADRENAL INSUFFICIENCY; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 7; COHORT STUDIES; FRAMESHIFT MUTATION; HAPLOINSUFFICIENCY; HUMANS; INFANT; INFANT, NEWBORN; MALE; MYELODYSPLASTIC SYNDROMES; PROTEINS;

EID: 85018969265     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI91913     Document Type: Article

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