Bernstein JA - Search Results

1

46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.

Esplin ED, Chaib H, Haney M, Martin B, Homeyer M, Urban AE, Bernstein JA. Esplin ED, et al. Among authors: bernstein ja. Am J Med Genet A. 2015 Jun;167(6):1360-4. doi: 10.1002/ajmg.a.37037. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25898814 Free PMC article. Review.

2

Clinical whole-exome sequencing: are we there yet?

Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: bernstein ja. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.

3

Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.

Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Myers A, et al. Among authors: bernstein ja. Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250515 Review.

4

Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects.

Brennan ML, Adam MP, Seaver LH, Myers A, Schelley S, Zadeh N, Hudgins L, Bernstein JA. Brennan ML, et al. Among authors: bernstein ja. Am J Med Genet A. 2015 Jan;167A(1):142-6. doi: 10.1002/ajmg.a.36831. Epub 2014 Nov 17. Am J Med Genet A. 2015. PMID: 25402239

5

Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

Atwal PS, Blease S, Braxton A, Graves J, He W, Person R, Slattery L, Bernstein JA, Hudgins L. Atwal PS, et al. Among authors: bernstein ja. Am J Med Genet A. 2016 Apr;170A(4):891-5. doi: 10.1002/ajmg.a.37491. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686323

6

Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11.2 deletion is less common than other chromosomal anomalies.

Gomez-Ospina N, Bernstein JA. Gomez-Ospina N, et al. Among authors: bernstein ja. Am J Med Genet A. 2016 Apr;170A(4):870-80. doi: 10.1002/ajmg.a.37538. Epub 2016 Jan 12. Am J Med Genet A. 2016. PMID: 26756138

7

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Macmurdo CF, Wooderchak-Donahue W, Bayrak-Toydemir P, Le J, Wallenstein MB, Milla C, Teng JM, Bernstein JA, Stevenson DA. Macmurdo CF, et al. Among authors: bernstein ja. Am J Med Genet A. 2016 Jun;170(6):1450-4. doi: 10.1002/ajmg.a.37613. Epub 2016 Mar 11. Am J Med Genet A. 2016. PMID: 26969842

8

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome).

Reierson G, Bernstein J, Froehlich-Santino W, Urban A, Purmann C, Berquist S, Jordan J, O'Hara R, Hallmayer J. Reierson G, et al. J Psychiatr Res. 2017 Aug;91:139-144. doi: 10.1016/j.jpsychires.2017.03.010. Epub 2017 Mar 16. J Psychiatr Res. 2017. PMID: 28346892 Free PMC article.

9

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Among authors: bernstein ja. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315

10

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Among authors: bernstein ja. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.

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