Travessa A - Search Results

1

Importance of Genetic Diagnosis in Global Developmental Delay: A Case of Cabezas Syndrome Caused by CUL4B Gene Deletion and Not Identified by Array-CHG.

Magalhães TL, Viegas MV, Mendonça C, Travessa A, Soares D. Magalhães TL, et al. Among authors: travessa a. Cureus. 2023 Sep 26;15(9):e46010. doi: 10.7759/cureus.46010. eCollection 2023 Sep. Cureus. 2023. PMID: 37900499 Free PMC article.

2

Ectopic Intrathyroidal Parathyroid Adenoma Presenting With Osteoporotic Fractures in a Young Man: A Case Report.

Cosme I, Nobre E, Travessa A, Santos C, Rocha J, Presa D, Barbosa AP. Cosme I, et al. Among authors: travessa a. Cureus. 2023 Oct 22;15(10):e47461. doi: 10.7759/cureus.47461. eCollection 2023 Oct. Cureus. 2023. PMID: 38021888 Free PMC article.

3

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. 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.

4

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. 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.

5

Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.

Lorenzo C, Travessa AM, Ferreira AC, Modamio-Høybjør S, Heath KE, Pereira C. Lorenzo C, et al. Among authors: travessa am. Am J Med Genet A. 2023 Jan;191(1):280-283. doi: 10.1002/ajmg.a.62980. Epub 2022 Sep 26. Am J Med Genet A. 2023. PMID: 36164748

6

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. 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

7

Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.

Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. Among authors: travessa am. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039

8

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Semler O, et al. Among authors: travessa am. Adv Ther. 2024 Jan;41(1):198-214. doi: 10.1007/s12325-023-02705-9. Epub 2023 Oct 26. Adv Ther. 2024. PMID: 37882884 Free PMC article.

9

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. 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.

10

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. 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

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