Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
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Congenital nystagmus and central hypothyroidismRecent advances in central congenital hypothyroidismHypothyroidism in the newborn periodInsights from exome sequencing for endocrine disordersIGSF1 deficiency syndrome: A newly uncovered endocrinopathyNeonatal screening and a new cause of congenital central hypothyroidismIGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.Is IGSF1 involved in human pituitary tumor formation?The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoproteinRare coding variants and X-linked loci associated with age at menarche.Genetic mapping of canine fear and aggression.ISL1 Is Necessary for Maximal Thyrotrope Response to Hypothyroidism.Exercise-mimetic AICAR transiently benefits brain function.Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.Isolated central hypothyroidism in young siblings as a manifestation of PROP1 deficiency: clinical impact of whole exome sequencingMutations in TBL1X Are Associated With Central Hypothyroidism.The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.Perspectives in Pediatric Pathology, Chapter 15. Macrorchidism as the Expression of Several Congenital and Acquired Pathologies.Molecular insights into the aetiology of female reproductive ageing.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Minireview: Insights Into the Structural and Molecular Consequences of the TSH-β Mutation C105Vfs114X.Central hypothyroidism - a neglected thyroid disorder.Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome.Congenital hypothyroidism: insights into pathogenesis and treatment.Demographic history, selection and functional diversity of the canine genome.Central hypothyroidism in adults: better understanding for better care.TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.Central Hypothyroidism Due to a TRHR Mutation Causing Impaired Ligand Affinity and Transactivation of Gq.Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report.Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central HypothyroidismGenes underlying delayed puberty
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P2860
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
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2012 nî lūn-bûn
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2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Loss-of-function mutations in ...... ism and testicular enlargement
@ast
Loss-of-function mutations in ...... ism and testicular enlargement
@en
Loss-of-function mutations in ...... ism and testicular enlargement
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type
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Loss-of-function mutations in ...... ism and testicular enlargement
@ast
Loss-of-function mutations in ...... ism and testicular enlargement
@en
Loss-of-function mutations in ...... ism and testicular enlargement
@nl
prefLabel
Loss-of-function mutations in ...... ism and testicular enlargement
@ast
Loss-of-function mutations in ...... ism and testicular enlargement
@en
Loss-of-function mutations in ...... ism and testicular enlargement
@nl
P2093
P2860
P50
P3181
P356
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Loss-of-function mutations in ...... ism and testicular enlargement
@en
P2093
A S Paul van Trotsenburg
Anita C S Hokken-Koelega
Cathy A J Bosch
Claudia A L Ruivenkamp
Daniel J Bernard
Daria Gorbenko Del Blanco
Eleonora P Corssmit
Emma Cambridge
Guido C J Hovens
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P2888
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P3181
P356
10.1038/NG.2453
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P50
P577
2012-11-11T00:00:00Z