Found: 18
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Unravelling morphoea aetiopathogenesis by next-generation sequencing of paired skin biopsies.
- Published in:
- Archives of Dermatological Research, 2023, v. 315, n. 7, p. 2035, doi. 10.1007/s00403-023-02541-5
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- Article
Genetics of septo-optic dysplasia.
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- Pituitary, 2007, v. 10, n. 4, p. 393, doi. 10.1007/s11102-007-0055-5
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- Article
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2511, doi. 10.1093/hmg/ddt643
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- Article
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
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- Human Molecular Genetics, 2012, v. 21, n. 16, p. 3681, doi. 10.1093/hmg/dds197
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- Publication type:
- Article
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
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- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114
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- Article
CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.01372
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- Article
Hypothalamic and pituitary development: novel insights into the aetiology.
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- European Journal of Endocrinology, 2007, v. 157, p. S3, doi. 10.1530/EJE-07-0156
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- Publication type:
- Article
Expanding the Spectrum of Mutations in GH1 and GHRHR: Genetic Screening in a Large Cohort of Patients with Congenital Isolated Growth Hormone Deficiency.
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- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 9, p. 3191, doi. 10.1210/jc.2008-2783
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- Article
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
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- 2008
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- Publication type:
- journal article
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
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- 2007
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- Publication type:
- journal article
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
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- 2007
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- Publication type:
- journal article
Increased Transactivation Associated with SOX3 Polyalanine Tract Deletion in a Patient with Hypopituitarism
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- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 4, p. E685, doi. 10.1210/jc.2010-1239
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- Publication type:
- Article
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
- Published in:
- 2006
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- Publication type:
- journal article
Novel missense variants in the RNF213 gene from a European family with Moyamoya disease.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0066-6
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- Article
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3096, doi. 10.1093/brain/awt218
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- Article
Functional Analysis of FOXE3 Mutations Causing Dominant and Recessive Ocular Anterior Segment Disease.
- Published in:
- Human Mutation, 2015, v. 36, n. 3, p. 296, doi. 10.1002/humu.22741
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- Article
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.
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- Human Mutation, 2011, v. 32, n. 12, p. 1376, doi. 10.1002/humu.21606
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- Publication type:
- Article
Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1144, doi. 10.1002/humu.21550
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- Publication type:
- Article