Search Results - "Quedas EPS"

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Authors: Corso BM Simões LO de Oliveira KMK et al.

Corporate Authors: Corso BM Simões LO de Oliveira KMK et al.

Source: Molecular syndromology [Mol Syndromol] 2026 Feb; Vol. 17 (1), pp. 15-27. Date of Electronic Publication: 2025 Mar 24.

Publication Type: Journal Article

Journal Info: Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Clinical Characteristics of Children with <italic>THRA</italic> Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Authors: Jorge AAL Andrade NLM Rezende RC et al.

Source: Hormone research in paediatrics [Horm Res Paediatr] 2025; Vol. 98 (5), pp. 457-464. Date of Electronic Publication: 2024 May 14.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Case report: Insulinomatosis: description of four sporadic cases and review of the literature.

Authors: Lourenço DM Jr Corrêa-Giannella ML Siqueira SAC et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Jan 09; Vol. 14, pp. 1308662. Date of Electronic Publication: 2024 Jan 09 (Print Publication: 2023).

Publication Type: Review; Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

Sitosterolemia caused by compound heterozygosis of 2 allelic variants in the ABCG5 gene-21 years of follow-up.

Authors: Coutinho JGV Costa ACS Issa MMM et al.

Source: Journal of clinical lipidology [J Clin Lipidol] 2025 Jul-Aug; Vol. 19 (4), pp. 1139-1144. Date of Electronic Publication: 2025 Jun 15.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101300157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1933-2874 (Print) Linking ISSN: 18764789 NLM ISO Abbreviation: J Clin Lipidol Subsets: MEDLINE

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys.

Authors: Rezende RC Noronha RM Keselman A et al.

Source: Hormone research in paediatrics [Horm Res Paediatr] 2022; Vol. 95 (1), pp. 51-61. Date of Electronic Publication: 2022 Feb 17.

Publication Type: Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile.

Authors: Noronha RM Villares SMF Torres N et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Mar; Vol. 185 (3), pp. 774-780. Date of Electronic Publication: 2020 Dec 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Authors: Malaquias AC Noronha RM Souza TTO et al.

Source: Hormone research in paediatrics [Horm Res Paediatr] 2019; Vol. 91 (4), pp. 252-261. Date of Electronic Publication: 2019 May 27.

Publication Type: Clinical Trial; Journal Article

Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101525157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1663-2826 (Electronic) Linking ISSN: 16632818 NLM ISO Abbreviation: Horm Res Paediatr Subsets: MEDLINE

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Authors: Carvalho RA Urtremari B Jorge AAL et al.

Source: European journal of endocrinology [Eur J Endocrinol] 2018 Dec 01; Vol. 179 (6), pp. 391-407.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9423848 Publication Model: Print Cited Medium: Internet ISSN: 1479-683X (Electronic) Linking ISSN: 08044643 NLM ISO Abbreviation: Eur J Endocrinol Subsets: MEDLINE

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Authors: Santana LS Caetano LA Costa-Riquetto AD et al.

Source: Clinical genetics [Clin Genet] 2017 Oct; Vol. 92 (4), pp. 388-396. Date of Electronic Publication: 2017 Apr 12.

Publication Type: Journal Article

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE