Milunsky JM - Search Results

1

Dental issues in lacrimo-auriculo-dento-digital syndrome: An autosomal dominant condition with clinical and genetic variability.

Hajianpour MJ, Bombei H, Lieberman SM, Revell R, Krishna R, Gregorsok R, Kao S, Milunsky JM. Hajianpour MJ, et al. Among authors: milunsky jm. J Am Dent Assoc. 2017 Mar;148(3):157-163. doi: 10.1016/j.adaj.2016.11.016. Epub 2016 Dec 30. J Am Dent Assoc. 2017. PMID: 28043400

2

LADD syndrome is caused by FGF10 mutations.

Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. Milunsky JM, et al. Clin Genet. 2006 Apr;69(4):349-54. doi: 10.1111/j.1399-0004.2006.00597.x. Clin Genet. 2006. PMID: 16630169

3

Agenesis or hypoplasia of major salivary and lacrimal glands.

Milunsky JM, Lee VW, Siegel BS, Milunsky A. Milunsky JM, et al. Among authors: milunsky a. Am J Med Genet. 1990 Nov;37(3):371-4. doi: 10.1002/ajmg.1320370316. Am J Med Genet. 1990. PMID: 2260568

4

TFAP2A mutations result in branchio-oculo-facial syndrome.

Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. Milunsky JM, et al. Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008.03.005. Am J Hum Genet. 2008. PMID: 18423521 Free PMC article.

5

Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP.

Milunsky JM, Maher TA, Metzenberg AB. Milunsky JM, et al. Am J Med Genet A. 2003 Jan 30;116A(3):249-54. doi: 10.1002/ajmg.a.10849. Am J Med Genet A. 2003. PMID: 12503101

6

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Flore LA, Leon E, Maher TA, Milunsky JM. Flore LA, et al. Among authors: milunsky jm. J Pediatr Genet. 2012 Jun;1(2):125-9. doi: 10.3233/PGE-2012-020. J Pediatr Genet. 2012. PMID: 27625812 Free PMC article.

7

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

Milunsky JM, Maher TA, Michels VV, Milunsky A. Milunsky JM, et al. Among authors: milunsky a. Am J Med Genet. 2001 May 15;100(4):311-4. doi: 10.1002/ajmg.1270. Am J Med Genet. 2001. PMID: 11343322

8

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A. Milunsky JM, et al. Among authors: milunsky a. Genet Test. 2001 Winter;5(4):321-5. doi: 10.1089/109065701753617462. Genet Test. 2001. PMID: 11960578

9

XL PCR for the detection of large trinucleotide expansions in juvenile Huntington's disease.

Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M. Milunsky JM, et al. Clin Genet. 2003 Jul;64(1):70-3. doi: 10.1034/j.1399-0004.2003.00108.x. Clin Genet. 2003. PMID: 12791042

10

The value of MLPA in Waardenburg syndrome.

Milunsky JM, Maher TA, Ito M, Milunsky A. Milunsky JM, et al. Among authors: milunsky a. Genet Test. 2007 Summer;11(2):179-82. doi: 10.1089/gte.2006.0531. Genet Test. 2007. PMID: 17627390

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