Kaplan P - Search Results

1

Lateral meningocele syndrome: three new patients and review of the literature.

Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Among authors: kaplan p. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.

2

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Li M, et al. Among authors: kaplan p. Am J Med Genet. 1996 Oct 16;65(2):101-3. doi: 10.1002/(SICI)1096-8628(19961016)65:2<101::AID-AJMG3>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8911598

3

Immune abnormalities are a frequent manifestation of Kabuki syndrome.

Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Hoffman JD, et al. Am J Med Genet A. 2005 Jun 15;135(3):278-81. doi: 10.1002/ajmg.a.30722. Am J Med Genet A. 2005. PMID: 15887282 Review.

4

Cystic kidney disease in Hajdu-Cheney syndrome.

Kaplan P, Ramos F, Zackai EH, Bellah RD, Kaplan BS. Kaplan P, et al. Among authors: kaplan bs. Am J Med Genet. 1995 Mar 13;56(1):25-30. doi: 10.1002/ajmg.1320560108. Am J Med Genet. 1995. PMID: 7747781 Review.

5

Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

Ramos FJ, Kaplan BS, Bellah RD, Zackai EH, Kaplan P. Ramos FJ, et al. Among authors: kaplan p, kaplan bs. Am J Med Genet. 1998 Aug 6;78(5):474-81. doi: 10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c. Am J Med Genet. 1998. PMID: 9714016

6

Atypical Williams syndrome in an infant with complete atrioventricular canal defect.

Ahrens-Nicklas RC, Reichert SL, Zackai EH, Kaplan PB. Ahrens-Nicklas RC, et al. Am J Med Genet A. 2015 Dec;167A(12):3108-12. doi: 10.1002/ajmg.a.37288. Epub 2015 Aug 14. Am J Med Genet A. 2015. PMID: 26271350

7

Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Ritter AL, et al. Among authors: kaplan p. Am J Med Genet A. 2018 Sep;176(9):1890-1896. doi: 10.1002/ajmg.a.40380. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152016

8

Increased prevalence of urinary symptoms and voiding dysfunction in Williams syndrome.

Schulman SL, Zderic S, Kaplan P. Schulman SL, et al. Among authors: kaplan p. J Pediatr. 1996 Sep;129(3):466-9. doi: 10.1016/s0022-3476(96)70086-0. J Pediatr. 1996. PMID: 8804343

9

Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease.

Sampson MG, Coughlin CR 2nd, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L. Sampson MG, et al. Among authors: kaplan p. Am J Med Genet A. 2010 Oct;152A(10):2618-22. doi: 10.1002/ajmg.a.33628. Am J Med Genet A. 2010. PMID: 20799338

10

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

Rupps R, Elliott AM, Azouz EM, Bernstein ML, Kaplan P, Eydoux P, Der Kaloustian VM. Rupps R, et al. Among authors: kaplan p. Am J Med Genet. 1996 Aug 23;64(3):497-500. doi: 10.1002/(SICI)1096-8628(19960823)64:3<497::AID-AJMG10>3.0.CO;2-G. Am J Med Genet. 1996. PMID: 8862629

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