Hopkin RJ - Search Results

1

Congenital lumbar hernia-A feature of diabetic embryopathy?

Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA. Stevens CA, et al. Among authors: hopkin rj. Am J Med Genet A. 2018 Nov;176(11):2243-2249. doi: 10.1002/ajmg.a.40381. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276953

2

New insights into the phenotypes of 6q deletions.

Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. Hopkin RJ, et al. Am J Med Genet. 1997 Jun 27;70(4):377-86. Am J Med Genet. 1997. PMID: 9182778 Review.

3

Upper airway malformation associated with partial trisomy 11q.

Zhao HQ, Rope AF, Saal HM, Blough-Pfau RI, Hopkin RJ. Zhao HQ, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 Jul 30;120A(3):331-7. doi: 10.1002/ajmg.a.20134. Am J Med Genet A. 2003. PMID: 12838551

4

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ. Cragun DL, et al. Among authors: hopkin rj. Am J Med Genet A. 2004 Aug 15;129A(1):1-7. doi: 10.1002/ajmg.a.30170. Am J Med Genet A. 2004. PMID: 15266606

5

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC, Chen YT. Burrow TA, et al. Among authors: hopkin rj. Am J Med Genet A. 2006 Apr 15;140(8):878-82. doi: 10.1002/ajmg.a.31166. Am J Med Genet A. 2006. PMID: 16528737

6

Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.

Zarate YA, Mena R, Martin LJ, Steele P, Tinkle BT, Hopkin RJ. Zarate YA, et al. Among authors: hopkin rj. Am J Med Genet A. 2009 Aug;149A(8):1691-7. doi: 10.1002/ajmg.a.32966. Am J Med Genet A. 2009. PMID: 19610116

7

Lethal presentation of neurofibromatosis and Noonan syndrome.

Prada CE, Zarate YA, Hagenbuch S, Lovell A, Schorry EK, Hopkin RJ. Prada CE, et al. Among authors: hopkin rj. Am J Med Genet A. 2011 Jun;155A(6):1360-6. doi: 10.1002/ajmg.a.33996. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567923

8

Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?

Sellars EA, Zimmerman SL, Smolarek T, Hopkin RJ. Sellars EA, et al. Among authors: hopkin rj. Am J Med Genet A. 2011 Jun;155A(6):1409-13. doi: 10.1002/ajmg.a.33997. Epub 2011 May 12. Am J Med Genet A. 2011. PMID: 21567924

9

Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.

Miller EM, Hopkin R, Bao L, Ware SM. Miller EM, et al. Am J Med Genet A. 2012 Mar;158A(3):533-40. doi: 10.1002/ajmg.a.34426. Epub 2012 Feb 3. Am J Med Genet A. 2012. PMID: 22308078 Review.

10

Tetrasomy 15q25.2→qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation.

George-Abraham JK, Zimmerman SL, Hinton RB, Marino BS, Witte DP, Hopkin RJ. George-Abraham JK, et al. Among authors: hopkin rj. Am J Med Genet A. 2012 Aug;158A(8):1971-6. doi: 10.1002/ajmg.a.35428. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711292

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