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Items: 1 to 50 of 76

1.

Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing.

Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A.

Clin Genet. 2019 Nov;96(5):473-477. doi: 10.1111/cge.13617. Epub 2019 Aug 13.

PMID:
31389005
2.

Branchiooculofacial Syndrome.

Lin AE, Haldeman-Englert CR, Milunsky JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 May 31 [updated 2018 Mar 29].

3.

Prenatal diagnosis of chronic intestinal pseudo-obstruction and paternal somatic mosaicism for the ACTG2 pathogenic variant.

Milunsky A, Lazier J, Baldwin C, Young C, Primack D, Milunsky JM.

Prenat Diagn. 2017 Dec;37(12):1254-1256. doi: 10.1002/pd.5171. Epub 2017 Nov 28. No abstract available.

PMID:
29072330
4.

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, Bilan F, Milunsky JM, Basran R, Papsin B, Stockley TL, Scherer SW, Choufani S, Brudno M, Weksberg R.

Am J Hum Genet. 2017 May 4;100(5):773-788. doi: 10.1016/j.ajhg.2017.04.004.

5.

Waardenburg Syndrome Type I.

Milunsky JM.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2001 Jul 30 [updated 2017 May 4].

6.

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.

J Am Dent Assoc. 2017 Mar;148(3):157-163. doi: 10.1016/j.adaj.2016.11.016. Epub 2016 Dec 30.

PMID:
28043400
7.

The Genetics of Benign Paroxysmal Torticollis of Infancy: Is There an Association With Mutations in the CACNA1A Gene?

Shin M, Douglass LM, Milunsky JM, Rosman NP.

J Child Neurol. 2016 Jul;31(8):1057-61. doi: 10.1177/0883073816636226. Epub 2016 Mar 9. Review.

PMID:
26961263
8.

Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5).

Walters-Sen LC, Windemuth K, Angione K, Nandhlal J, Milunsky JM.

Eur J Med Genet. 2015 May;58(5):305-9. doi: 10.1016/j.ejmg.2015.03.004. Epub 2015 Apr 6.

PMID:
25858703
9.

Biallelic mutations in huntington disease: A new case with just one affected parent, review of the literature and terminology.

Uhlmann WR, Peñaherrera MS, Robinson WP, Milunsky JM, Nicholson JM, Albin RL.

Am J Med Genet A. 2015 May;167A(5):1152-60. doi: 10.1002/ajmg.a.37009. Epub 2015 Mar 3.

PMID:
25736541
11.

The syndrome of hypoparathyroidism, deafness, and renal anomalies.

Upadhyay J, Steenkamp DW, Milunsky JM.

Endocr Pract. 2013 Nov-Dec;19(6):1035-42. doi: 10.4158/EP13050.RA.

PMID:
23757620
12.

Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB.

N Engl J Med. 2013 May 23;368(21):1992-2003. doi: 10.1056/NEJMoa1215993. Epub 2013 May 8.

14.

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

Flore LA, Milunsky JM.

Semin Pediatr Neurol. 2012 Dec;19(4):173-80. doi: 10.1016/j.spen.2012.09.004. Review.

PMID:
23245550
15.

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.

16.

A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.

Dumitrescu AV, Milunsky JM, Longmuir SQ, Drack AV.

Ophthalmic Genet. 2012 Jun;33(2):100-6. doi: 10.3109/13816810.2011.634878. Epub 2011 Dec 22.

PMID:
22191992
17.

Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.

Leon E, Jamal SM, Zou YS, Milunsky JM.

Am J Med Genet A. 2011 Jul;155A(7):1740-4. doi: 10.1002/ajmg.a.34073. Epub 2011 Jun 10.

PMID:
21671393
18.

De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

Hamdan FF, Daoud H, Piton A, Gauthier J, Dobrzeniecka S, Krebs MO, Joober R, Lacaille JC, Nadeau A, Milunsky JM, Wang Z, Carmant L, Mottron L, Beauchamp MH, Rouleau GA, Michaud JL.

Biol Psychiatry. 2011 May 1;69(9):898-901. doi: 10.1016/j.biopsych.2010.11.015. Epub 2011 Jan 15.

PMID:
21237447
19.

Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE.

Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783.

PMID:
21204207
20.

Mosaic Down syndrome in a patient with low-level mosaicism detected by microarray.

Leon E, Zou YS, Milunsky JM.

Am J Med Genet A. 2010 Dec;152A(12):3154-6. doi: 10.1002/ajmg.a.33739.

PMID:
21108401
21.

Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.

Jamal SM, Basran RK, Newton S, Wang Z, Milunsky JM.

Am J Med Genet A. 2010 Oct;152A(10):2475-81. doi: 10.1002/ajmg.a.33611.

PMID:
20830798
22.

A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21).

Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, Kurahashi H, Zackai EH, Emanuel BS.

Am J Hum Genet. 2010 Aug 13;87(2):209-18. doi: 10.1016/j.ajhg.2010.07.002. Epub 2010 Jul 30.

23.

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
24.

Clinical genetic testing for patients with autism spectrum disorders.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15.

25.

A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.

Zou YS, Newton S, Milunsky JM.

Am J Med Genet A. 2010 Feb;152A(2):498-503. doi: 10.1002/ajmg.a.33266. No abstract available.

PMID:
20101702
26.

Developmental disability and hypomelanosis of Ito in a female with 7.3 Mb de novo duplication of Xp11.3-p11.4 and random X inactivation.

Zou YS, Milunsky JM.

Am J Med Genet A. 2009 Nov;149A(11):2573-7. doi: 10.1002/ajmg.a.33066. No abstract available.

PMID:
19876908
27.

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, Südhof TC.

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

28.

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
29.

Further delineation of the critical region for the 9p-duplication syndrome.

Zou YS, Huang XL, Ito M, Newton S, Milunsky JM.

Am J Med Genet A. 2009 Feb;149A(2):272-6. doi: 10.1002/ajmg.a.32607. No abstract available.

PMID:
19161157
30.

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..

31.

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
32.

Autism spectrum disorders: clinical and research frontiers.

Caronna EB, Milunsky JM, Tager-Flusberg H.

Arch Dis Child. 2008 Jun;93(6):518-23. doi: 10.1136/adc.2006.115337. Epub 2008 Feb 27. Review.

PMID:
18305076
33.

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.

Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr.

Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008.

PMID:
18000912
34.

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
35.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE.

Pediatrics. 2007 Jul;120(1):e179-88.

PMID:
17606542
36.

Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion.

Vaglio A, Greif G, Bernal M, Sanguinetti C, Mechoso B, Quadrelli A, Tucci P, Milunsky JM, Huang XL, Pagano S, Quadrelli R.

Genet Test. 2006 Winter;10(4):272-6.

PMID:
17253933
37.

Autosomal dominant syndrome resembling Coffin-Siris syndrome.

Flynn MA, Milunsky JM.

Am J Med Genet A. 2006 Jun 15;140(12):1326-30.

PMID:
16691594
38.

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
39.

Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH.

Wyandt HE, Shim SH, Mark HF, Huang XL, Milunsky JM.

Exp Mol Pathol. 2006 Jun;80(3):262-6. Epub 2006 Mar 6.

PMID:
16516886
40.

Correlation of abnormal rapid FISH and chromosome results from amniocytes for prenatal diagnosis.

Wyandt HE, Tonk VS, Huang XL, Evans AT, Milunsky JM, Milunsky A.

Fetal Diagn Ther. 2006;21(2):235-40.

PMID:
16491010
41.

Constitutional partial 1q trisomy mosaicism and Wilms tumor.

Mark HF, Wyandt H, Pan A, Milunsky JM.

Cancer Genet Cytogenet. 2005 Oct 15;162(2):166-71.

PMID:
16213366
42.

Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene.

Milunsky A, Shim SH, Ito M, Jaekle RK, Bassett LL, Brumund MR, Milunsky JM.

Prenat Diagn. 2005 Jul;25(7):582-5.

PMID:
16032769
44.

Adult-onset neuronal ceroid lipofuscinosis type B in an African-American.

Ivan CS, Saint-Hilaire MH, Christensen TG, Milunsky JM.

Mov Disord. 2005 Jun;20(6):752-4.

PMID:
15726574
45.

FISH Variants with D15Z1.

Shim SH, Pan A, Huang XL, Tonk VS, Varma SK, Milunsky JM, Wyandt HE.

J Assoc Genet Technol. 2003;29(4):146-151.

PMID:
15213412
46.

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
47.
48.

Connexin-30 deletion analysis in connexin-26 heterozygotes.

Stevenson VA, Ito M, Milunsky JM.

Genet Test. 2003 Summer;7(2):151-4.

PMID:
12885339
49.

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
50.

Cerebro-oculo-facial-lymphatic syndrome.

Milunsky JM, Capin DM.

Clin Genet. 2003 Apr;63(4):291-6.

PMID:
12702162

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