Zarate YA - Search Results

1

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. Aldinger KA, et al. Among authors: zarate ya. Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29. Am J Hum Genet. 2019. PMID: 31474318 Free PMC article.

2

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2007 Feb 1;143A(3):265-70. doi: 10.1002/ajmg.a.31519. Am J Med Genet A. 2007. PMID: 17219392 Review.

3

Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.

Sutherell J, Zarate Y, Tinkle BT, Markham LW, Cripe LH, Hyland JC, Witte D, Hopkin RJ, Hinton RB. Sutherell J, et al. Congenit Heart Dis. 2007 Sep-Oct;2(5):342-6. doi: 10.1111/j.1747-0803.2007.00123.x. Congenit Heart Dis. 2007. PMID: 18377451

4

Fabry's disease.

Zarate YA, Hopkin RJ. Zarate YA, et al. Lancet. 2008 Oct 18;372(9647):1427-35. doi: 10.1016/S0140-6736(08)61589-5. Lancet. 2008. PMID: 18940466 Review.

5

Phenotypic and microscopic description of a new case of Ermine phenotype.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Jun;149A(6):1253-6. doi: 10.1002/ajmg.a.32815. Am J Med Genet A. 2009. PMID: 19449401

6

Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.

Zarate YA, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Jul;149A(7):1569-70. doi: 10.1002/ajmg.a.32903. Am J Med Genet A. 2009. PMID: 19533777 No abstract available.

7

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Zarate YA, et al. Am J Med Genet A. 2009 Aug;149A(8):1691-7. doi: 10.1002/ajmg.a.32966. Am J Med Genet A. 2009. PMID: 19610116

8

A case of minimal change disease in a Fabry patient.

Zarate YA, Patterson L, Yin H, Hopkin RJ. Zarate YA, et al. Pediatr Nephrol. 2010 Mar;25(3):553-6. doi: 10.1007/s00467-009-1353-0. Epub 2009 Oct 30. Pediatr Nephrol. 2010. PMID: 19876652

9

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Zarate YA, et al. Pediatrics. 2010 Mar;125(3):e543-9. doi: 10.1542/peds.2009-1656. Epub 2010 Feb 8. Pediatrics. 2010. PMID: 20142284

10

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: zarate ya. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923

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