Zarate YA - Search Results

1

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ. Tepe B, et al. Among authors: zarate ya. Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12. Am J Hum Genet. 2023. PMID: 37054711 Free PMC article.

2

Nuclear radiation and prevalence of structural birth defects among infants born to women from the Marshall Islands.

Nembhard WN, McElfish PA, Ayers B, Collins RT, Shan X, Rabie NZ, Zarate YA, Maity S, Cen R, Robbins JA. Nembhard WN, et al. Among authors: zarate ya. Birth Defects Res. 2019 Oct 1;111(16):1192-1204. doi: 10.1002/bdr2.1551. Epub 2019 Jul 16. Birth Defects Res. 2019. PMID: 31313527 Free PMC article.

3

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.

4

Intestinal malrotation in a patient with Pfeiffer syndrome type 2.

Zarate YA, Putnam PE, Saal HM. Zarate YA, et al. Cleft Palate Craniofac J. 2010 Nov;47(6):638-41. doi: 10.1597/09-115. Epub 2010 Feb 28. Cleft Palate Craniofac J. 2010. PMID: 20509766

5

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

6

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

7

Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 Mutation.

Zarate YA, Zhan H, Jones JR. Zarate YA, et al. Mol Syndromol. 2012 Oct;3(4):180-4. doi: 10.1159/000342253. Epub 2012 Aug 30. Mol Syndromol. 2012. PMID: 23239960 Free PMC article.

8

Genetic causes of macroglossia: diagnostic approach.

Prada CE, Zarate YA, Hopkin RJ. Prada CE, et al. Among authors: zarate ya. Pediatrics. 2012 Feb;129(2):e431-7. doi: 10.1542/peds.2011-1732. Epub 2012 Jan 16. Pediatrics. 2012. PMID: 22250026

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

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.

Zarate YA, Dwivedi A, Bartel FO, Corning K, Dupont BR. Zarate YA, et al. Am J Med Genet A. 2011 Feb;155A(2):386-91. doi: 10.1002/ajmg.a.33799. Epub 2010 Dec 22. Am J Med Genet A. 2011. PMID: 21271659

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