Search Results - "Costa-Riquetto AD"

Families' perspectives and the development of an educational program for diabetes in schools.

Authors: Cudizio L Brambilla IR Araújo KGM et al.

Source: Jornal de pediatria [J Pediatr (Rio J)] 2026 Mar-Apr; Vol. 102 (2), pp. 101512. Date of Electronic Publication: 2026 Feb 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Editora Ltd Country of Publication: Brazil NLM ID: 2985188R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1678-4782 (Electronic) Linking ISSN: 00217557 NLM ISO Abbreviation: J Pediatr (Rio J) Subsets: MEDLINE

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia.

Authors: Franco PC Santomauro AC Jr Costa-Riquetto AD et al.

Source: Communications medicine [Commun Med (Lond)] 2025 Oct 24; Vol. 5 (1), pp. 438. Date of Electronic Publication: 2025 Oct 24.

Publication Type: Journal Article

Journal Info: Publisher: Nature Portfolio Country of Publication: England NLM ID: 9918250414506676 Publication Model: Electronic Cited Medium: Internet ISSN: 2730-664X (Electronic) Linking ISSN: 2730664X NLM ISO Abbreviation: Commun Med (Lond) Subsets: PubMed not MEDLINE

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.

Authors: Costa-Riquetto AD de Santana LS Franco PC et al.

Source: Clinical genetics [Clin Genet] 2023 Apr; Vol. 103 (4), pp. 434-447. Date of Electronic Publication: 2022 Dec 23.

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

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

Phenotypic and molecular reanalysis of a cohort of patients with monogenic diabetes reveals a case of partial lipodystrophy due to the A8344G mutation in the mitochondrial DNA.

Authors: Franco PC Patrocinio M Costa-Riquetto AD et al.

Source: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2024 Jun 19; Vol. 68, pp. e230084. Date of Electronic Publication: 2024 Jun 19 (Print Publication: 2024).

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: eCollection Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age.

Authors: Santomauro AC Jr Magalhães ÁLF Motta FT et al.

Source: Diabetology & metabolic syndrome [Diabetol Metab Syndr] 2023 Feb 06; Vol. 15 (1), pp. 15. Date of Electronic Publication: 2023 Feb 06.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101488958 Publication Model: Electronic Cited Medium: Print ISSN: 1758-5996 (Print) Linking ISSN: 17585996 NLM ISO Abbreviation: Diabetol Metab Syndr Subsets: PubMed not MEDLINE

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

Authors: Montenegro RM Jr Costa-Riquetto AD Fernandes VO et al.

Source: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2018 Aug 20; Vol. 9, pp. 458. Date of Electronic Publication: 2018 Aug 20 (Print Publication: 2018).

Publication Type: Case Reports; Journal Article

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: PubMed not MEDLINE

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

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

Source: Clinical genetics [Clin Genet] 2018 Feb; Vol. 93 (2), pp. 382-386. Date of Electronic Publication: 2017 Jul 19.

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

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

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

Targeted massively parallel sequencing for congenital generalized lipodystrophy.

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

Source: Archives of endocrinology and metabolism [Arch Endocrinol Metab] 2021 May 18; Vol. 64 (5), pp. 559-566.

Publication Type: Journal Article

Journal Info: Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Print Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE

Targeted sequencing identifies novel variants in common and rare MODY genes.

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

Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Dec; Vol. 7 (12), pp. e962. Date of Electronic Publication: 2019 Oct 08.

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

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

Acquired Lipodystrophy Associated With Nivolumab in a Patient With Advanced Renal Cell Carcinoma.

Authors: Falcao CK Cabral MCS Mota JM et al.

Source: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Aug 01; Vol. 104 (8), pp. 3245-3248.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE