Found: 12
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Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi Syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 252, doi. 10.1038/ejhg.2014.103
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- Article
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2669, doi. 10.3390/ijms25052669
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- Article
Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith–Wiedemann syndrome.
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- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 409, doi. 10.1038/sj.ejhg.5200649
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- Article
CLINICAL CASE SEMINAR: A Case Report in Favor of a Multistep Adrenocortical Tumorigenesis.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 3, p. 998, doi. 10.1210/jc.2002-021117
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- Article
High Expression of Cyclin E and G1 CDK and Loss of Function of p57<sup>KIP2</sup> Are Involved in Proliferation of Malignant Sporadic Adrenocortical Tumors.
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- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 1, p. 322, doi. 10.1210/jcem.85.1.6303
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- Article
Assessment of Turner’s Syndrome by Molecular Analysis of the X Chromosome in Growth-Retarded Girls.
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- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 5, p. 1472, doi. 10.1210/jc.83.5.1472
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- Article
Structural and Functional Abnormalities at 11p15 Are Associated with the Malignant Phenotype in Sporadic Adrenocortical Tumors: Study on a Series of 82 Tumors.
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- Journal of Clinical Endocrinology & Metabolism, 1997, v. 82, n. 8, p. 2559, doi. 10.1210/jcem.82.8.4170
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- Article
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.
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- Acta Dermato-Venereologica, 2020, v. 100, n. 2, p. 1, doi. 10.2340/00015555-3359
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- Article
Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation.
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- Acta Dermato-Venereologica, 2017, v. 97, n. 3, p. 402, doi. 10.2340/00015555-2554
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- Article
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
- Published in:
- Human Mutation, 2017, v. 38, n. 10, p. 1297, doi. 10.1002/humu.23276
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- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
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- Article
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9
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- Article