Hopkin RJ - Search Results

1

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.

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

Increased need for medical interventions in infants with velocardiofacial (deletion 22q11) syndrome.

Hopkin RJ, Schorry EK, Bofinger M, Saal HM. Hopkin RJ, et al. J Pediatr. 2000 Aug;137(2):247-9. doi: 10.1067/mpd.2000.108272. J Pediatr. 2000. PMID: 10931419

4

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Tinkle BT, Walker ME, Blough-Pfau RI, Saal HM, Hopkin RJ. Tinkle BT, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 Apr 1;118A(1):90-5. doi: 10.1002/ajmg.a.10216. Am J Med Genet A. 2003. PMID: 12605450

5

Long-term survival in a patient with del(18)(q12.2q21.1).

Tinkle BT, Christianson CA, Schorry EK, Webb T, Hopkin RJ. Tinkle BT, et al. Among authors: hopkin rj. Am J Med Genet A. 2003 May 15;119A(1):66-70. doi: 10.1002/ajmg.a.10217. Am J Med Genet A. 2003. PMID: 12707962

6

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

7

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

8

Perception of disease severity in adolescents diagnosed with neurofibromatosis type 1.

Sebold CD, Lovell A, Hopkin R, Noll R, Schorry E. Sebold CD, et al. J Adolesc Health. 2004 Oct;35(4):297-302. doi: 10.1016/j.jadohealth.2003.10.003. J Adolesc Health. 2004. PMID: 15450543

9

Human blood genomics: distinct profiles for gender, age and neurofibromatosis type 1.

Tang Y, Lu A, Ran R, Aronow BJ, Schorry EK, Hopkin RJ, Gilbert DL, Glauser TA, Hershey AD, Richtand NW, Privitera M, Dalvi A, Sahay A, Szaflarski JP, Ficker DM, Ratner N, Sharp FR. Tang Y, et al. Among authors: hopkin rj. Brain Res Mol Brain Res. 2004 Dec 20;132(2):155-67. doi: 10.1016/j.molbrainres.2003.10.014. Brain Res Mol Brain Res. 2004. PMID: 15582155

10

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

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