Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism
about
A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expressionEuropean Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.Sublingual thyroid ectopy: similarities and differences with Kallmann syndrome.Genetics of nonsyndromic orofacial cleftsThe consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.Thyroid transcription factor FOXE1 interacts with ETS factor ELK1 to co-regulate TERT.Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
P2860
Q28115316-1AED19E3-7228-48AE-B292-8EF14DA6EBE2Q34396356-CC5623C5-ACD4-4FB3-B871-D162FCA515FEQ35105669-40EB85B3-03C0-4FE0-BA10-019519106521Q36219320-2124DF59-15EB-4671-A724-06B2C787EA35Q37886251-39B74003-F79B-4E3C-B86A-052F3AD842B9Q38207914-797B5170-41D0-4FBC-8608-792717AD0B20Q42016940-BA6CC743-7A6C-4648-B597-CC52DA6C66CEQ50336055-751CD176-E2FC-4475-8FE7-551F91AA0B96
P2860
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism
description
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
@ast
im August 2010 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2010/08/01)
@sk
vědecký článek publikovaný v roce 2010
@cs
wetenschappelijk artikel (gepubliceerd op 2010/08/01)
@nl
наукова стаття, опублікована в серпні 2010
@uk
مقالة علمية (نشرت في أغسطس 2010)
@ar
name
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@ast
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@en
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@nl
type
label
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@ast
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@en
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@nl
prefLabel
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@ast
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@en
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@nl
P2093
P356
P1476
Maternal isodisomy for chromos ...... omic congenital hypothyroidism
@en
P2093
Catherine Mitchell
Erik Schoenmakers
F. Lucy Raymond
John Schwabe
Mark Gurnell
Maura Agostini
Mireille Castanet
Stephanie Demuth
V. Krishna Chatterjee
P304
P356
10.1210/JC.2010-0275
P407
P50
P577
2010-08-01T00:00:00Z