Samanich JM - Search Results

1

A unique presentation of Wiskott-Aldrich syndrome in relation to platelet size.

Patel PD, Samanich JM, Mitchell WB, Manwani D. Patel PD, et al. Among authors: samanich jm. Pediatr Blood Cancer. 2011 Jul 1;56(7):1127-9. doi: 10.1002/pbc.22920. Epub 2011 Feb 10. Pediatr Blood Cancer. 2011. PMID: 21488158

2

17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature.

Cohen L, Samanich J, Pan Q, Mehta L, Marion R. Cohen L, et al. J Pediatr Genet. 2012 Jun;1(2):135-41. doi: 10.3233/PGE-2012-022. J Pediatr Genet. 2012. PMID: 27625814 Free PMC article.

3

Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.

Samanich J, Montagna C, Morrow BE, Babcock M. Samanich J, et al. J Pediatr Genet. 2012 Mar;1(1):47-53. doi: 10.3233/PGE-2012-009. J Pediatr Genet. 2012. PMID: 27625801 Free PMC article.

4

Genetic evaluation of American minority pediatric cochlear implant recipients.

Fischer TC, Samanich J, Morrow BE, Chobot-Rodd J, Shanske A, Parikh SR. Fischer TC, et al. Int J Pediatr Otorhinolaryngol. 2009 Feb;73(2):195-203. doi: 10.1016/j.ijporl.2008.10.002. Epub 2008 Dec 9. Int J Pediatr Otorhinolaryngol. 2009. PMID: 19081147

5

A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.

Ma D, Marion R, Punjabi NP, Pereira E, Samanich J, Agarwal C, Li J, Huang CK, Ramesh KH, Cannizzaro LA, Naeem R. Ma D, et al. Mol Cytogenet. 2014 Nov 26;7(1):85. doi: 10.1186/s13039-014-0085-4. eCollection 2014. Mol Cytogenet. 2014. PMID: 25484916 Free PMC article.

6

Cleft palate.

Samanich J. Samanich J. Pediatr Rev. 2009 Jun;30(6):230-2. doi: 10.1542/pir.30-6-230. Pediatr Rev. 2009. PMID: 19487432 No abstract available.

7

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication.

Pope K, Samanich J, Ramesh KH, Cannizzaro L, Pan Q, Babcock M. Pope K, et al. Am J Med Genet A. 2012 Mar;158A(3):641-7. doi: 10.1002/ajmg.a.34431. Epub 2012 Feb 2. Am J Med Genet A. 2012. PMID: 22302699

8

Molecular characterization of an interstitial deletion of 1p31.3 in a patient with obesity and psychiatric illness and a review of the literature.

Petti M, Samanich J, Pan Q, Huang CK, Reinmund J, Farooqi S, Morrow B, Babcock M. Petti M, et al. Am J Med Genet A. 2011 Apr;155A(4):825-32. doi: 10.1002/ajmg.a.33869. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416589 Review.

9

Spectrum of elastin sequence variants and cardiovascular phenotypes in 49 patients with Williams-Beuren syndrome.

Delio M, Pope K, Wang T, Samanich J, Haldeman-Englert CR, Kaplan P, Shaikh TH, Cai J, Marion RW, Morrow BE, Babcock M. Delio M, et al. Am J Med Genet A. 2013 Mar;161A(3):527-33. doi: 10.1002/ajmg.a.35784. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401415

10

A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

Patel K, Giese AP, Grossheim JM, Hegde RS, Delio M, Samanich J, Riazuddin S, Frolenkov GI, Cai J, Ahmed ZM, Morrow BE. Patel K, et al. Among authors: samanich j. PLoS One. 2015 Oct 1;10(10):e0133082. doi: 10.1371/journal.pone.0133082. eCollection 2015. PLoS One. 2015. PMID: 26426422 Free PMC article.

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