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Deletion 22q11: spectrum of associated disorders.
Hay BN. Hay BN. Semin Pediatr Neurol. 2007 Sep;14(3):136-9. doi: 10.1016/j.spen.2007.07.005. Semin Pediatr Neurol. 2007. PMID: 17980310 Review.
Dystrophic epidermolysis bullosa associated with amniotic band syndrome.
Snadecki H, Criscione V, Jaquith A, Hay B, Deng A, Wiss K. Snadecki H, et al. Among authors: hay b. Pediatr Dermatol. 2014 Mar-Apr;31(2):212-6. doi: 10.1111/pde.12285. Epub 2014 Jan 3. Pediatr Dermatol. 2014. PMID: 24383893
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, Kukolich MK, Weiss MM, van Ravenswaaij-Arts CM, Mathijssen IB, Levesque S, Meeks N, Rosenfeld JA, Lemke D, Hamosh A, Lewis SK, Race S, Stewart LL, Hay B, Lewis AM, Guerreiro RL, Bras JT, Martins MP, Derksen-Lubsen G, Peeters E, Stumpel C, Stegmann S, Bok LA, Santen GW, Schaaf CP. Fountain MD, et al. Among authors: hay b. Genet Med. 2017 Jan;19(1):45-52. doi: 10.1038/gim.2016.53. Epub 2016 May 19. Genet Med. 2017. PMID: 27195816 Free PMC article.
Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia.
Hochberg JC, Miron PM, Hay BN, Woda BA, Wang SA, Richert-Przygonska M, Aprikyan AA, Newburger PE. Hochberg JC, et al. Among authors: hay bn. Pediatr Blood Cancer. 2008 Mar;50(3):630-2. doi: 10.1002/pbc.21094. Pediatr Blood Cancer. 2008. PMID: 17096407
Noonan syndrome with loose anagen hair associated with trichorrhexis nodosa and trichoptilosis.
Kane J, Berrebi K, McLean R, Petkiewicz S, Hay B, Martin M, Wiss K. Kane J, et al. Among authors: hay b. Clin Case Rep. 2017 Jun 1;5(7):1152-1154. doi: 10.1002/ccr3.1011. eCollection 2017 Jul. Clin Case Rep. 2017. PMID: 28680615 Free PMC article.
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G. Hilton E, et al. Among authors: hay b. Eur J Hum Genet. 2009 Oct;17(10):1325-35. doi: 10.1038/ejhg.2009.52. Epub 2009 Apr 15. Eur J Hum Genet. 2009. PMID: 19367324 Free PMC article.
De novo mutations in PURA are associated with hypotonia and developmental delay.
Tanaka AJ, Bai R, Cho MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Bauer M, Retterer K, Juusola J, Chung WK. Tanaka AJ, et al. Among authors: hay b. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000356. doi: 10.1101/mcs.a000356. Cold Spring Harb Mol Case Stud. 2015. PMID: 27148565 Free PMC article.
Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1.
St John J, Summe H, Csikesz C, Wiss K, Hay B, Belazarian L. St John J, et al. Among authors: hay b. Pediatr Dermatol. 2016 Sep;33(5):526-9. doi: 10.1111/pde.12936. Epub 2016 Jul 28. Pediatr Dermatol. 2016. PMID: 27469520
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment.
Hay BN, Martin JE, Karp B, Davis J, Darnell D, Solomon B, Turner M, Holland SM, Puck JM. Hay BN, et al. Am J Med Genet A. 2004 Mar 1;125A(2):145-51. doi: 10.1002/ajmg.a.20595. Am J Med Genet A. 2004. PMID: 14981714
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: hay b. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
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