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Items: 22

1.

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

Flore LA, Leon E, Maher TA, Milunsky JM.

J Pediatr Genet. 2012 Jun;1(2):125-9. doi: 10.3233/PGE-2012-020.

2.

Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.

Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A.

Am J Med Genet A. 2011 Aug;155A(8):1987-90. doi: 10.1002/ajmg.a.34094. Epub 2011 Jul 7.

PMID:
21739585
3.

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A.

Pediatrics. 2010 Dec;126(6):e1594-8. doi: 10.1542/peds.2010-0164. Epub 2010 Nov 1.

PMID:
21041284
4.

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism.

Huang XL, Zou YS, Maher TA, Newton S, Milunsky JM.

Am J Med Genet A. 2010 Aug;152A(8):2112-4. doi: 10.1002/ajmg.a.33497. No abstract available.

PMID:
20635338
5.

A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export.

Zhang C, Milunsky JM, Newton S, Ko J, Zhao G, Maher TA, Tager-Flusberg H, Bolliger MF, Carter AS, Boucard AA, Powell CM, S├╝dhof TC.

J Neurosci. 2009 Sep 2;29(35):10843-54. doi: 10.1523/JNEUROSCI.1248-09.2009.

6.

Prenatal molecular diagnosis of tuberous sclerosis complex.

Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM.

Am J Obstet Gynecol. 2009 Mar;200(3):321.e1-6. doi: 10.1016/j.ajog.2008.11.004.

PMID:
19254590
7.

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.

Am J Hum Genet. 2008 May;82(5):1171-7. doi: 10.1016/j.ajhg.2008.03.005. Erratum in: Am J Hum Genet. 2009 Feb;84(2):301..

8.

A re-examination of the chromosome 8p22-8p23.1 region in Kabuki syndrome.

Milunsky JM, Maher TA, Zhao G, Huang XL, Wang Z, Zou Y.

Clin Genet. 2008 May;73(5):502-3. doi: 10.1111/j.1399-0004.2008.00983.x. Epub 2008 Mar 11. No abstract available.

PMID:
18336587
9.

A 21 years follow-up of a girl patient with a pseudodicentric bisatellited chromosome 22 associated with partial trisomy 22pter-->22q12.1: clinical, cytogenetic and molecular observations.

Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Maher TA, Quadrelli R.

Eur J Med Genet. 2008 Jul-Aug;51(4):332-42. doi: 10.1016/j.ejmg.2008.01.001. Epub 2008 Jan 25.

PMID:
18316257
10.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Huang XL, Isabel de Michelena M, Leon E, Maher TA, McClure R, Milunsky A.

Clin Genet. 2007 Nov;72(5):434-40. Epub 2007 Sep 25.

PMID:
17894838
11.

The value of MLPA in Waardenburg syndrome.

Milunsky JM, Maher TA, Ito M, Milunsky A.

Genet Test. 2007 Summer;11(2):179-82.

PMID:
17627390
12.

LADD syndrome is caused by FGF10 mutations.

Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB.

Clin Genet. 2006 Apr;69(4):349-54.

PMID:
16630169
13.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Milunsky A, Konialis C, Shim SH, Maher TA, Spengos K, Ito M, Pangalos C.

Prenat Diagn. 2005 Nov;25(11):1057-8.

PMID:
16302168
14.

Fragile X carrier screening and spinocerebellar ataxia in older males.

Milunsky JM, Maher TA.

Am J Med Genet A. 2004 Mar 15;125A(3):320. No abstract available.

PMID:
14994246
15.

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

Milunsky JM, Maher TA, Loose BA, Darras BT, Ito M.

Clin Genet. 2003 Jul;64(1):70-3.

PMID:
12791042
17.

Mutation analysis in Rett syndrome.

Milunsky JM, Lebo RV, Ikuta T, Maher TA, Haverty CE, Milunsky A.

Genet Test. 2001 Winter;5(4):321-5.

PMID:
11960578
18.

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

Milunsky JM, Maher TA, Michels VV, Milunsky A.

Am J Med Genet. 2001 May 15;100(4):311-4.

PMID:
11343322
19.

Connexin-26 gene analysis in hearing-impaired newborns.

Milunsky JM, Maher TA, Yosunkaya E, Vohr BR.

Genet Test. 2000;4(4):345-9.

PMID:
11216657
20.

Fertility in men with cystic fibrosis: an update on current surgical practices and outcomes.

McCallum TJ, Milunsky JM, Cunningham DL, Harris DH, Maher TA, Oates RD.

Chest. 2000 Oct;118(4):1059-62.

PMID:
11035677
21.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

Anguiano A, Oates RD, Amos JA, Dean M, Gerrard B, Stewart C, Maher TA, White MB, Milunsky A.

JAMA. 1992 Apr 1;267(13):1794-7.

PMID:
1545465
22.

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

Milunsky A, Skare JC, Milunsky JM, Maher TA, Amos JA.

Am J Obstet Gynecol. 1991 Mar;164(3):751-5.

PMID:
2003536

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