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Items: 1 to 20 of 29

1.

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

Bostwick BL, McLean S, Posey JE, Streff HE, Gripp KW, Blesson A, Powell-Hamilton N, Tusi J, Stevenson DA, Farrelly E, Hudgins L, Yang Y, Xia F, Wang X, Liu P, Walkiewicz M, McGuire M, Grange DK, Andrews MV, Hummel M, Madan-Khetarpal S, Infante E, Coban-Akdemir Z, Miszalski-Jamka K, Jefferies JL; Members of the Undiagnosed Diseases Network, Rosenfeld JA, Emrick L, Nugent KM, Lupski JR, Belmont JW, Lee B, Lalani SR.

Genome Med. 2017 Aug 14;9(1):73. doi: 10.1186/s13073-017-0463-8.

2.

Infant Botulism in the Very Young Neonate: A Case Series.

Jackson L, Madan-Khetarpal S, Naik M, Michaels MG, Riley M.

AJP Rep. 2017 Jul;7(3):e163-e166. doi: 10.1055/s-0037-1604407. Epub 2017 Jul 31.

3.

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review.

Hu J, Ou Z, Infante E, Kochmar SJ, Madan-Khetarpal S, Hoffner L, Parsazad S, Surti U.

Mol Cytogenet. 2017 Jun 19;10:24. doi: 10.1186/s13039-017-0326-4. eCollection 2017.

4.

Aplastic anemia and cytotoxic T lymphocyte antigen-4 haploinsufficiency treated with bone marrow transplantation.

Makadia P, Srinath A, Madan-Khetarpal S, McGuire M, Infante E, Zhang J, Felgar RE, Davis AW, Chong HJ, Windreich RM.

J Allergy Clin Immunol Pract. 2017 Sep - Oct;5(5):1445-1447.e2. doi: 10.1016/j.jaip.2017.03.007. Epub 2017 May 9. No abstract available.

PMID:
28499781
5.

6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy.

Cheng A, Dinulos MBP, Neufeld-Kaiser W, Rosenfeld J, Kyriss M, Madan-Khetarpal S, Risheg H, Byers PH, Liu YJ.

Am J Med Genet A. 2017 May 2. doi: 10.1002/ajmg.a.38254. [Epub ahead of print]

PMID:
28464518
6.

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function.

Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, Tagliati M, Graham JM, Madan-Khetarpal S, Traynelis SF, Yuan H, Pierson TM.

J Hum Genet. 2017 Jun;62(6):589-597. doi: 10.1038/jhg.2017.19. Epub 2017 Feb 23.

7.

Familial deletion of the HOXA gene cluster associated with Hand-Foot-Genital syndrome and phenotypic variability.

Tas E, Sebastian J, Madan-Khetarpal S, Sweet P, Yatsenko AN, Pollock N, Rajkovic A, Schneck FX, Yatsenko SA, Witchel SF.

Am J Med Genet A. 2017 Jan;173(1):221-224. doi: 10.1002/ajmg.a.37981. Epub 2016 Sep 20.

PMID:
27649277
8.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YW, Mok GT, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P.

Hum Genet. 2016 May;135(5):569-86. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12.

9.

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

Li Y, Garrod AS, Madan-Khetarpal S, Sreedher G, McGuire M, Yagi H, Klena NT, Gabriel GC, Khalifa O, Zahid M, Panigrahy A, Weiner DJ, Lo CW.

Am J Med Genet A. 2015 Sep;167A(9):2188-96. doi: 10.1002/ajmg.a.37133. Epub 2015 Apr 25.

PMID:
25914204
10.

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.

Su CT, Huang JW, Chiang CK, Lawrence EC, Levine KL, Dabovic B, Jung C, Davis EC, Madan-Khetarpal S, Urban Z.

Hum Mol Genet. 2015 Jul 15;24(14):4024-36. doi: 10.1093/hmg/ddv139. Epub 2015 Apr 16.

11.

A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U.

Am J Med Genet A. 2015 Aug;167A(8):1921-6. doi: 10.1002/ajmg.a.37110. Epub 2015 Apr 10.

PMID:
25866352
12.

Craniofacial abnormalities and developmental delay in two families with overlapping 22q12.1 microdeletions involving the MN1 gene.

Beck M, Peterson JF, McConnell J, McGuire M, Asato M, Losee JE, Surti U, Madan-Khetarpal S, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2015 May;167A(5):1047-53. doi: 10.1002/ajmg.a.36839. Epub 2015 Mar 21.

PMID:
25810350
13.

Biomechanical properties of the skin in cutis laxa.

Kozel BA, Su CT, Danback JR, Minster RL, Madan-Khetarpal S, McConnell JS, Mac Neal MK, Levine KL, Wilson RC, Sciurba FC, Urban Z.

J Invest Dermatol. 2014 Nov;134(11):2836-2838. doi: 10.1038/jid.2014.224. Epub 2014 May 20. No abstract available.

14.

Clear cell sarcoma of the kidney in a child with Fanconi anemia.

Trejo Bittar HE, Radder JE, Ranganathan S, Srinivasan A, Madan-Khetarpal S, Reyes-Múgica M.

Pediatr Dev Pathol. 2014 Jul-Aug;17(4):297-301. doi: 10.2350/14-03-1450-CR.1. Epub 2014 Apr 15. Review. Erratum in: Pediatr Dev Pathol. 2015 Jan-Feb;18(1):79.

PMID:
24735155
15.

Familial microduplication of 17q23.1–q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females.

Peterson JF, Ghaloul-Gonzalez L, Madan-Khetarpal S, Hartman J, Surti U, Rajkovic A, Yatsenko SA.

Am J Med Genet A. 2014 Feb;164A(2):364-9. doi: 10.1002/ajmg.a.36238.

PMID:
24592505
16.

Array CGH as a first-tier test for neonates with congenital heart disease.

Bachman KK, DeWard SJ, Chrysostomou C, Munoz R, Madan-Khetarpal S.

Cardiol Young. 2015 Jan;25(1):115-22. doi: 10.1017/S1047951113001868. Epub 2013 Nov 6.

PMID:
24192140
17.

Co-existence of 9p deletion and Silver-Russell syndromes in a patient with maternally inherited cryptic complex chromosome rearrangement involving chromosomes 4, 9, and 11.

Hu J, Sathanoori M, Kochmar S, Madan-Khetarpal S, McGuire M, Surti U.

Am J Med Genet A. 2013 Jan;161A(1):179-84. doi: 10.1002/ajmg.a.35658. Epub 2012 Dec 7.

PMID:
23225375
18.

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa.

Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A.

Hum Mutat. 2013 Jan;34(1):111-21. doi: 10.1002/humu.22165. Epub 2012 Aug 13.

19.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

20.

Erratum: GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: relief of treatment-refractory depression and suicidal behaviour.

Pan L, McKain BW, Madan-Khetarpal S, McGuire M, Diler RS, Perel JM, Vockley J, Brent DA.

BMJ Case Rep. 2011;2011:bcr0320113927corr1. doi: 10.1136/bcr.03.2011.3927.corr1. Epub 2011 Jun 30.

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