Sousa AB - Search Results

1

Spondyloepiphyseal dysplasia type Stanescu: Expanding the clinical and molecular spectrum of a very rare type II collagenopathy.

Travessa AM, Díaz-González F, Mirco T, Oliveira-Ramos F, Parrón-Pajares M, Heath KE, Sousa AB. Travessa AM, et al. Among authors: sousa ab. Am J Med Genet A. 2020 Nov;182(11):2715-2721. doi: 10.1002/ajmg.a.61817. Epub 2020 Aug 28. Am J Med Genet A. 2020. PMID: 32856782

2

Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal.

Almeida MR, Campos-Xavier AB, Medeira A, Cordeiro I, Sousa AB, Lima M, Soares G, Rocha M, Saraiva J, Ramos L, Sousa S, Marcelino JP, Correia A, Santos HG. Almeida MR, et al. Among authors: sousa s, sousa ab. Clin Genet. 2009 Feb;75(2):150-6. doi: 10.1111/j.1399-0004.2008.01123.x. Clin Genet. 2009. PMID: 19215249

3

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature.

Soeiro E Sá M, Moldovan O, Sousa AB. Soeiro E Sá M, et al. Among authors: sousa ab. Am J Med Genet A. 2016 Jul;170(7):1903-7. doi: 10.1002/ajmg.a.37675. Epub 2016 Apr 26. Am J Med Genet A. 2016. PMID: 27112935 Review.

4

Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus.

Travessa A, Dias P, Rocha P, Sousa AB. Travessa A, et al. Among authors: sousa ab. Taiwan J Obstet Gynecol. 2017 Aug;56(4):541-544. doi: 10.1016/j.tjog.2017.01.012. Taiwan J Obstet Gynecol. 2017. PMID: 28805615 Free article.

5

Upper limb phocomelia: A prenatal case of thrombocytopenia-absent radius (TAR) syndrome illustrating the importance of chromosomal microarray in limb reduction defects.

Travessa AM, Dias P, Santos A, Custódio S, Sousa A, Sousa AB. Travessa AM, et al. Among authors: sousa a, sousa ab. Taiwan J Obstet Gynecol. 2020 Mar;59(2):318-322. doi: 10.1016/j.tjog.2020.01.024. Taiwan J Obstet Gynecol. 2020. PMID: 32127157 Free article.

6

A fetus with an immature umbilical cord teratoma associated with exomphalos: case report and review of the literature.

Travessa AM, Santo S, Luís R, Carvalho Afonso M, Carvalho R, Vitorino E, Sousa AB. Travessa AM, et al. Among authors: sousa ab. Rom J Morphol Embryol. 2020 Jul-Sep;61(3):953-957. doi: 10.47162/RJME.61.3.37. Rom J Morphol Embryol. 2020. PMID: 33817740 Free PMC article. Review.

7

The Added Value of a Multidisciplinary Clinic for Systemic Autoinflammatory Diseases.

Zinterl C, Costa-Reis P, Esteves IC, Marques JG, Sousa AB, Fonseca JE, Oliveira Ramos F. Zinterl C, et al. Among authors: sousa ab. J Multidiscip Healthc. 2022 May 4;15:999-1010. doi: 10.2147/JMDH.S351546. eCollection 2022. J Multidiscip Healthc. 2022. PMID: 35548670 Free PMC article.

8

Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant.

Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB. Travessa AM, et al. Among authors: sousa ab, sousa sb. Eur J Med Genet. 2023 Nov;66(11):104867. doi: 10.1016/j.ejmg.2023.104867. Epub 2023 Oct 13. Eur J Med Genet. 2023. PMID: 37839784

9

Uniparental Disomy as a Mechanism for Combined Oxidative Phosphorylation Deficiency Associated with MRPS34 Gene.

Soares MP, Travessa AM, Custódio S, Pereira C, Pinto P, Sousa AB. Soares MP, et al. Among authors: sousa ab. Endocr Metab Immune Disord Drug Targets. 2024 Jan 12. doi: 10.2174/0118715303283767231120113921. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2024. PMID: 38243972

10

Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.

Barbosa M, Sousa AB, Medeira A, Lourenço T, Saraiva J, Pinto-Basto J, Soares G, Fortuna AM, Superti-Furga A, Mittaz L, Reis-Lima M, Bonafé L. Barbosa M, et al. Among authors: sousa ab. Clin Genet. 2011 Dec;80(6):550-7. doi: 10.1111/j.1399-0004.2010.01595.x. Epub 2010 Dec 13. Clin Genet. 2011. PMID: 21155763

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