Hopkin RJ - Search Results

1

Variable phenotype in a novel mutation in PHOX2B.

Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ. Lombardo RC, et al. Among authors: hopkin rj. Am J Med Genet A. 2017 Jun;173(6):1705-1709. doi: 10.1002/ajmg.a.38218. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422456

2

Progressive laryngotracheal stenosis with short stature and arthropathy.

Hopkin RJ, Cotton R, Langer LO, Saal HM. Hopkin RJ, et al. Am J Med Genet. 1998 Nov 16;80(3):241-6. doi: 10.1002/(sici)1096-8628(19981116)80:3<241::aid-ajmg12>3.0.co;2-#. Am J Med Genet. 1998. PMID: 9843046

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

A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.

Zarate YA, Kogan JM, Schorry EK, Smolarek TA, Hopkin RJ. Zarate YA, et al. Among authors: hopkin rj. Am J Med Genet A. 2007 Feb 1;143A(3):265-70. doi: 10.1002/ajmg.a.31519. Am J Med Genet A. 2007. PMID: 17219392 Review.

7

Phenotypic and microscopic description of a new case of Ermine phenotype.

Zarate YA, Pacheco MC, Bove KE, Gorlin R, Zhao H, Hopkin RJ. Zarate YA, et al. Among authors: hopkin rj. Am J Med Genet A. 2009 Jun;149A(6):1253-6. doi: 10.1002/ajmg.a.32815. Am J Med Genet A. 2009. PMID: 19449401

8

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

9

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

10

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.

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