Hing AV - Search Results

1

Haploinsufficiency of SF3B2 causes craniofacial microsomia.

Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: hing av. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.

2

Participation in a national diagnostic research study: assessing the patient experience.

Rosenfeld LE, LeBlanc K, Nagy A, Ego BK; Undiagnosed Diseases Network; McCray AT. Rosenfeld LE, et al. Orphanet J Rare Dis. 2023 Apr 10;18(1):73. doi: 10.1186/s13023-023-02695-5. Orphanet J Rare Dis. 2023. PMID: 37032333 Free PMC article.

3

Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in "lost" descendants of the original kindred.

Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Heike C, et al. Am J Med Genet. 2001 May 15;100(4):315-24. doi: 10.1002/ajmg.1266. Am J Med Genet. 2001. PMID: 11343323

4

Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.

Hing AV, Syed N, Cunningham ML. Hing AV, et al. Am J Med Genet A. 2004 Aug 1;128A(4):374-82. doi: 10.1002/ajmg.a.30091. Am J Med Genet A. 2004. PMID: 15264282

5

Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors.

Slavotinek A, Parisi M, Heike C, Hing A, Huang E. Slavotinek A, et al. Am J Med Genet A. 2005 May 15;135(1):13-20. doi: 10.1002/ajmg.a.30694. Am J Med Genet A. 2005. PMID: 15810008 Review.

6

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA. Cunningham ML, et al. Among authors: hing av. Birth Defects Res A Clin Mol Teratol. 2006 Feb;76(2):78-85. doi: 10.1002/bdra.20231. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16463420 Review.

7

New scaphocephaly severity indices of sagittal craniosynostosis: a comparative study with cranial index quantifications.

Ruiz-Correa S, Sze RW, Starr JR, Lin HT, Speltz ML, Cunningham ML, Hing AV. Ruiz-Correa S, et al. Among authors: hing av. Cleft Palate Craniofac J. 2006 Mar;43(2):211-21. doi: 10.1597/04-208.1. Cleft Palate Craniofac J. 2006. PMID: 16526927

8

Symbolic shape descriptors for classifying craniosynostosis deformations from skull imaging.

Lin H, Ruiz-Correa S, Shapiro LG, Hing A, Cunningham ML, Speltz M, Sze R. Lin H, et al. Conf Proc IEEE Eng Med Biol Soc. 2005;2005:6325-31. doi: 10.1109/IEMBS.2005.1615944. Conf Proc IEEE Eng Med Biol Soc. 2005. PMID: 17281714

9

Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.

Heike CL, Avellino AM, Mirza SK, Kifle Y, Perkins J, Sze R, Egbert M, Hing AV. Heike CL, et al. Among authors: hing av. Cleft Palate Craniofac J. 2007 May;44(3):340-6. doi: 10.1597/05-196. Cleft Palate Craniofac J. 2007. PMID: 17477750

10

Syndromic craniosynostosis: from history to hydrogen bonds.

Cunningham ML, Seto ML, Ratisoontorn C, Heike CL, Hing AV. Cunningham ML, et al. Among authors: hing av. Orthod Craniofac Res. 2007 May;10(2):67-81. doi: 10.1111/j.1601-6343.2007.00389.x. Orthod Craniofac Res. 2007. PMID: 17552943 Review.

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