Vengoechea J - Search Results

1

Description of the first case of adenomyomatosis of the gallbladder in an infant.

Zarate YA, Bosanko KA, Jarasvaraparn C, Vengoechea J, McDonough EM. Zarate YA, et al. Among authors: vengoechea j. Case Rep Pediatr. 2014;2014:248369. doi: 10.1155/2014/248369. Epub 2014 Jun 15. Case Rep Pediatr. 2014. PMID: 25024860 Free PMC article.

2

Duplication of the ALDH1A2 gene in association with pentalogy of Cantrell: a case report.

Steiner MB, Vengoechea J, Collins RT 2nd. Steiner MB, et al. Among authors: vengoechea j. J Med Case Rep. 2013 Dec 30;7:287. doi: 10.1186/1752-1947-7-287. J Med Case Rep. 2013. PMID: 24377748 Free PMC article.

3

Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.

Vengoechea J, Carpenter L, Zárate YA. Vengoechea J, et al. Am J Med Genet A. 2014 Jul;164A(7):1857-9. doi: 10.1002/ajmg.a.36515. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700687 No abstract available.

4

Genetics and cardiovascular disease: the impact of molecular diagnosis.

Vengoechea J, McKelvey KD Jr. Vengoechea J, et al. J Ark Med Soc. 2013 Apr;109(11):230-2. J Ark Med Soc. 2013. PMID: 23691714

5

Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2.

Vengoechea J, David MP, Yaghi SR, Carpenter L, Rudnicki SA. Vengoechea J, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Dec;14(7-8):615-9. doi: 10.3109/21678421.2013.824001. Epub 2013 Aug 14. Amyotroph Lateral Scler Frontotemporal Degener. 2013. PMID: 23944734

6

Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia.

Vengoechea J, Carpenter L. Vengoechea J, et al. Am J Med Genet A. 2015 Jun;167(6):1421-2. doi: 10.1002/ajmg.a.36986. Epub 2015 Apr 10. Am J Med Genet A. 2015. PMID: 25866257 No abstract available.

7

A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.

Vengoechea J, Tallo C. Vengoechea J, et al. J Med Genet. 2017 Oct;54(10):682-684. doi: 10.1136/jmedgenet-2017-104690. Epub 2017 Jul 28. J Med Genet. 2017. PMID: 28754699 No abstract available.

8

In reply to "Mast Cell Disorders in Ehlers-Danlos Syndrome".

Vengoechea J. Vengoechea J. Am J Med Genet A. 2018 Jan;176(1):250. doi: 10.1002/ajmg.a.38518. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130629 No abstract available.

9

A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.

Vengoechea J, DiMonda J. Vengoechea J, et al. Am J Med Genet A. 2020 Jun;182(6):1535-1536. doi: 10.1002/ajmg.a.61556. Epub 2020 Mar 23. Am J Med Genet A. 2020. PMID: 32202700 No abstract available.

10

Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.

Gonzalez A, Kapur S, Walsh M, Vengoechea J. Gonzalez A, et al. Among authors: vengoechea j. Am J Med Genet A. 2021 Aug;185(8):2582-2585. doi: 10.1002/ajmg.a.62233. Epub 2021 Apr 29. Am J Med Genet A. 2021. PMID: 33913598 No abstract available.

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