Hopkin RJ - Search Results

1

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

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

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

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

6

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion).

Miyamoto RC, Cotton RT, Rope AF, Hopkin RJ, Cohen AP, Shott SR, Rutter MJ. Miyamoto RC, et al. Among authors: hopkin rj. Otolaryngol Head Neck Surg. 2004 Apr;130(4):415-7. doi: 10.1016/j.otohns.2003.12.014. Otolaryngol Head Neck Surg. 2004. PMID: 15100636

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

Characterization of congenital anomalies in individuals with choanal atresia.

Burrow TA, Saal HM, de Alarcon A, Martin LJ, Cotton RT, Hopkin RJ. Burrow TA, et al. Among authors: hopkin rj. Arch Otolaryngol Head Neck Surg. 2009 Jun;135(6):543-7. doi: 10.1001/archoto.2009.53. Arch Otolaryngol Head Neck Surg. 2009. PMID: 19528400

9

DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.

Rope AF, Cragun DL, Saal HM, Hopkin RJ. Rope AF, et al. Among authors: hopkin rj. J Pediatr. 2009 Oct;155(4):560-5. doi: 10.1016/j.jpeds.2009.04.010. J Pediatr. 2009. PMID: 19595366

10

Evaluation of growth in patients with isolated cleft lip and/or cleft palate.

Zarate YA, Martin LJ, Hopkin RJ, Bender PL, Zhang X, Saal HM. Zarate YA, et al. Among authors: hopkin rj. Pediatrics. 2010 Mar;125(3):e543-9. doi: 10.1542/peds.2009-1656. Epub 2010 Feb 8. Pediatrics. 2010. PMID: 20142284

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