Hudgins L - Search Results

1

Autosomal dominant microtia and ocular coloboma: new syndrome or an extension of the oculo-auriculo-vertebral spectrum?

Beck AE, Hudgins L, Hoyme HE. Beck AE, et al. Among authors: hudgins l. Am J Med Genet A. 2005 May 1;134(4):359-62. doi: 10.1002/ajmg.a.30638. Am J Med Genet A. 2005. PMID: 15800906

2

Terminal deletion of 6p results in a recognizable phenotype.

Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L. Lin RJ, et al. Among authors: hudgins l. Am J Med Genet A. 2005 Jul 15;136(2):162-8. doi: 10.1002/ajmg.a.30784. Am J Med Genet A. 2005. PMID: 15940702 Review.

3

Triplication of 8p22-8p23 in a patient with features similar to Kabuki syndrome.

Shieh JT, Hudgins L, Cherry AM, Shen Z, Hoyme HE. Shieh JT, et al. Among authors: hudgins l. Am J Med Genet A. 2006 Jan 15;140(2):170-3. doi: 10.1002/ajmg.a.31036. Am J Med Genet A. 2006. PMID: 16353235

4

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum.

Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE. Manning MA, et al. Among authors: hudgins l. Pediatrics. 2004 Aug;114(2):451-7. doi: 10.1542/peds.114.2.451. Pediatrics. 2004. PMID: 15286229

5

Ectopia lentis as the presenting and primary feature in Marfan syndrome.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Zadeh N, et al. Among authors: hudgins l. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932315

6

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L. Carter LB, et al. Among authors: hudgins l. Am J Med Genet A. 2019 Aug;179(8):1543-1546. doi: 10.1002/ajmg.a.61266. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207089 Free PMC article. Review.

7

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. Battaglia A, et al. Among authors: hudgins l. Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Pediatrics. 2008. PMID: 18245432

8

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.

Chen KM, Bird L, Barnes P, Barth R, Hudgins L. Chen KM, et al. Among authors: hudgins l. Am J Med Genet A. 2005 Mar 1;133A(2):115-21. doi: 10.1002/ajmg.a.30526. Am J Med Genet A. 2005. PMID: 15666314 Review.

9

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?

Niemi AK, Kwan A, Hudgins L, Cherry AM, Manning MA. Niemi AK, et al. Among authors: hudgins l. Am J Med Genet A. 2012 Sep;158A(9):2328-35. doi: 10.1002/ajmg.a.35536. Epub 2012 Aug 7. Am J Med Genet A. 2012. PMID: 22887577

10

Clues to an early diagnosis of Kallmann syndrome.

Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Kaplan JD, et al. Among authors: hudgins l. Am J Med Genet A. 2010 Nov;152A(11):2796-801. doi: 10.1002/ajmg.a.33442. Am J Med Genet A. 2010. PMID: 20949504

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