Hedera P - Search Results

1

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Quinonez SC, Hedera P, Barr M, Ackley T, Lam C, Purkayastha A, Glover TW, Innis JW. Quinonez SC, et al. Among authors: hedera p. Am J Med Genet A. 2012 Oct;158A(10):2591-601. doi: 10.1002/ajmg.a.35563. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903861 Free article.

2

Retinitis pigmentosa, growth hormone deficiency, and acromelic skeletal dysplasia in two brothers: possible familial RHYNS syndrome.

Hedera P, Gorski JL. Hedera P, et al. Am J Med Genet. 2001 Jun 15;101(2):142-5. doi: 10.1002/ajmg.1338. Am J Med Genet. 2001. PMID: 11391657

3

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

Hedera P, Toriello HV, Petty EM. Hedera P, et al. J Med Genet. 2002 Jul;39(7):484-8. doi: 10.1136/jmg.39.7.484. J Med Genet. 2002. PMID: 12114479 Free PMC article.

4

Possible third case of Lin-Gettig syndrome.

Hedera P, Innis JW. Hedera P, et al. Am J Med Genet. 2002 Jul 15;110(4):380-3. doi: 10.1002/ajmg.10460. Am J Med Genet. 2002. PMID: 12116213 Free article. Review.

5

Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.

Hedera P, Innis JW. Hedera P, et al. Am J Med Genet A. 2003 Oct 15;122A(3):257-60. doi: 10.1002/ajmg.a.20263. Am J Med Genet A. 2003. PMID: 12966528

6

Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant Inheritance.

Hedera P, Gorski JL. Hedera P, et al. Am J Med Genet A. 2003 Dec 15;123A(3):261-6. doi: 10.1002/ajmg.a.20444. Am J Med Genet A. 2003. PMID: 14608648

7

Two patients with monomelic ulnar duplication with mirror hand polydactyly: segmental Laurin-Sandrow syndrome.

Innis JW, Hedera P. Innis JW, et al. Among authors: hedera p. Am J Med Genet A. 2004 Nov 15;131(1):77-81. doi: 10.1002/ajmg.a.30296. Am J Med Genet A. 2004. PMID: 15389704

8

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Hedera P, et al. Am J Hum Genet. 1999 Feb;64(2):563-9. doi: 10.1086/302258. Am J Hum Genet. 1999. PMID: 9973294 Free PMC article.

9

Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM.

Rainier S, Hedera P, Alvarado D, Zhao X, Kleopa KA, Heiman-Patterson T, Fink JK. Rainier S, et al. Among authors: hedera p. J Med Genet. 2001 Nov;38(11):E39. doi: 10.1136/jmg.38.11.e39. J Med Genet. 2001. PMID: 11694553 Free PMC article. No abstract available.

10

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

Fink JK, Rainer S, Wilkowski J, Jones SM, Kume A, Hedera P, Albin R, Mathay J, Girbach L, Varvil T, Otterud B, Leppert M. Fink JK, et al. Among authors: hedera p. Am J Hum Genet. 1996 Jul;59(1):140-5. Am J Hum Genet. 1996. PMID: 8659518 Free PMC article.

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