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Items: 49

1.

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P.

Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct.

2.

Clinical and molecular characterization of de novo loss of function variants in HNRNPU.

Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y.

Am J Med Genet A. 2017 Oct;173(10):2680-2689. doi: 10.1002/ajmg.a.38388. Epub 2017 Aug 16.

PMID:
28815871
3.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

4.

Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

Boone PM, Chan YM, Hunter JV, Pottkotter LE, Davino NA, Yang Y, Beuten J, Bacino CA.

Am J Med Genet A. 2016 Nov;170(11):3028-3032. doi: 10.1002/ajmg.a.37847. Epub 2016 Jul 13.

PMID:
27409069
5.

Mutation Screening and Association Study of the Folylpolyglutamate Synthetase (FPGS) Gene with Susceptibility to Childhood Acute Lymphoblastic Leukemia.

Piwkham D, Siriboonpiputtana T, Beuten J, Pakakasama S, Gelfond JA, Paisooksantivatana K, Tomlinson GE, Rerkamnuaychoke B.

Asian Pac J Cancer Prev. 2015;16(11):4727-32.

6.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

7.

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A.

PLoS Genet. 2014 Mar 27;10(3):e1004258. doi: 10.1371/journal.pgen.1004258. eCollection 2014 Mar.

8.

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

9.

Candidate gene association analysis of acute lymphoblastic leukemia identifies new susceptibility locus at 11p15 (LMO1).

Beuten J, Gelfond JA, Piwkham D, Pollock BH, Winick NJ, Collier AB 3rd, Tomlinson GE.

Carcinogenesis. 2011 Sep;32(9):1349-53. doi: 10.1093/carcin/bgr091. Epub 2011 May 21.

PMID:
21602560
10.

Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX.

Beuten J, Halder I, Fowler SP, Groing HH, Duggirala R, Arya R, Thompson IM, Leach RJ, Lehman DM.

Ann Hum Genet. 2011 Jul;75(4):529-38. doi: 10.1111/j.1469-1809.2011.00655.x. Epub 2011 May 18.

11.

Polymorphisms in CYP1A1 and ethnic-specific susceptibility to acute lymphoblastic leukemia in children.

Swinney RM, Beuten J, Collier AB 3rd, Chen TT, Winick NJ, Pollock BH, Tomlinson GE.

Cancer Epidemiol Biomarkers Prev. 2011 Jul;20(7):1537-42. doi: 10.1158/1055-9965.EPI-10-1265. Epub 2011 May 17.

12.

SIGLEC12, a human-specific segregating (pseudo)gene, encodes a signaling molecule expressed in prostate carcinomas.

Mitra N, Banda K, Altheide TK, Schaffer L, Johnson-Pais TL, Beuten J, Leach RJ, Angata T, Varki N, Varki A.

J Biol Chem. 2011 Jul 1;286(26):23003-11. doi: 10.1074/jbc.M111.244152. Epub 2011 May 9.

13.

Multilocus association of genetic variants in MLL, CREBBP, EP300, and TOP2A with childhood acute lymphoblastic leukemia in Hispanics from Texas.

Piwkham D, Gelfond JA, Rerkamnuaychoke B, Pakakasama S, Rebel VI, Pollock BH, Winick NJ, Collier AB 3rd, Tomlinson GE, Beuten J.

Cancer Epidemiol Biomarkers Prev. 2011 Jun;20(6):1204-12. doi: 10.1158/1055-9965.EPI-11-0059. Epub 2011 Apr 14.

14.

Identification of viral infections in the prostate and evaluation of their association with cancer.

Martinez-Fierro ML, Leach RJ, Gomez-Guerra LS, Garza-Guajardo R, Johnson-Pais T, Beuten J, Morales-Rodriguez IB, Hernandez-Ordoñez MA, Calderon-Cardenas G, Ortiz-Lopez R, Rivas-Estilla AM, Ancer-Rodriguez J, Rojas-Martinez A.

BMC Cancer. 2010 Jun 24;10:326. doi: 10.1186/1471-2407-10-326.

15.

Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.

Beuten J, Gelfond JA, Franke JL, Shook S, Johnson-Pais TL, Thompson IM, Leach RJ.

Cancer Epidemiol Biomarkers Prev. 2010 Feb;19(2):588-99. doi: 10.1158/1055-9965.EPI-09-0864. Epub 2010 Jan 19.

16.

Semaphorin 3B and 3F single nucleotide polymorphisms are associated with prostate cancer risk and poor prognosis.

Beuten J, Garcia D, Brand TC, He X, Balic I, Canby-Hagino E, Troyer DA, Baillargeon J, Hernandez J, Thompson IM, Leach RJ, Naylor SL.

J Urol. 2009 Oct;182(4):1614-20. doi: 10.1016/j.juro.2009.06.016. Epub 2009 Aug 15.

PMID:
19683737
17.

Ancestry informative markers and admixture proportions in northeastern Mexico.

Martinez-Fierro ML, Beuten J, Leach RJ, Parra EJ, Cruz-Lopez M, Rangel-Villalobos H, Riego-Ruiz LR, Ortiz-Lopez R, Martinez-Rodriguez HG, Rojas-Martinez A.

J Hum Genet. 2009 Sep;54(9):504-9. doi: 10.1038/jhg.2009.65. Epub 2009 Aug 14.

PMID:
19680268
18.

Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.

Beuten J, Gelfond JA, Martinez-Fierro ML, Weldon KS, Crandall AC, Rojas-Martinez A, Thompson IM, Leach RJ.

Carcinogenesis. 2009 Aug;30(8):1372-9. doi: 10.1093/carcin/bgp148. Epub 2009 Jun 15.

19.

Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer.

Beuten J, Gelfond JA, Franke JL, Weldon KS, Crandall AC, Johnson-Pais TL, Thompson IM, Leach RJ.

Cancer Epidemiol Biomarkers Prev. 2009 Jun;18(6):1869-80. doi: 10.1158/1055-9965.EPI-09-0076.

20.

CYP1B1 variants are associated with prostate cancer in non-Hispanic and Hispanic Caucasians.

Beuten J, Gelfond JA, Byrne JJ, Balic I, Crandall AC, Johnson-Pais TL, Thompson IM, Price DK, Leach RJ.

Carcinogenesis. 2008 Sep;29(9):1751-7. doi: 10.1093/carcin/bgm300. Epub 2008 Jun 9.

21.

VDR and SRD5A2 polymorphisms combine to increase risk for prostate cancer in both non-Hispanic White and Hispanic White men.

Torkko KC, van Bokhoven A, Mai P, Beuten J, Balic I, Byers TE, Hokanson JE, Norris JM, Barón AE, Lucia MS, Thompson IM, Leach RJ.

Clin Cancer Res. 2008 May 15;14(10):3223-9. doi: 10.1158/1078-0432.CCR-07-4894.

22.

Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample.

Huang W, Payne TJ, Ma JZ, Beuten J, Dupont RT, Inohara N, Li MD.

Neuropsychopharmacology. 2009 Jan;34(2):319-30. doi: 10.1038/npp.2008.37. Epub 2008 Mar 19.

23.

Significant association of DRD1 with nicotine dependence.

Huang W, Ma JZ, Payne TJ, Beuten J, Dupont RT, Li MD.

Hum Genet. 2008 Mar;123(2):133-40. Epub 2007 Dec 19.

PMID:
18092181
24.

Association of RNASEL variants with prostate cancer risk in Hispanic Caucasians and African Americans.

Shook SJ, Beuten J, Torkko KC, Johnson-Pais TL, Troyer DA, Thompson IM, Leach RJ.

Clin Cancer Res. 2007 Oct 1;13(19):5959-64.

25.

Linkage and association studies in African- and Caucasian-American populations demonstrate that SHC3 is a novel susceptibility locus for nicotine dependence.

Li MD, Sun D, Lou XY, Beuten J, Payne TJ, Ma JZ.

Mol Psychiatry. 2007 May;12(5):462-73. Epub 2006 Dec 19.

PMID:
17179996
26.

Association analysis of the protein phosphatase 1 regulatory subunit 1B (PPP1R1B) gene with nicotine dependence in European- and African-American smokers.

Beuten J, Ma JZ, Lou XY, Payne TJ, Li MD.

Am J Med Genet B Neuropsychiatr Genet. 2007 Apr 5;144B(3):285-90.

PMID:
17171661
28.

Association of specific haplotypes of neurotrophic tyrosine kinase receptor 2 gene (NTRK2) with vulnerability to nicotine dependence in African-Americans and European-Americans.

Beuten J, Ma JZ, Payne TJ, Dupont RT, Lou XY, Crews KM, Elston RC, Li MD.

Biol Psychiatry. 2007 Jan 1;61(1):48-55. Epub 2006 May 19.

PMID:
16713586
30.

Significant association of BDNF haplotypes in European-American male smokers but not in European-American female or African-American smokers.

Beuten J, Ma JZ, Payne TJ, Dupont RT, Quezada P, Huang W, Crews KM, Li MD.

Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):73-80.

PMID:
16152573
31.

Haplotype analysis indicates an association between the DOPA decarboxylase (DDC) gene and nicotine dependence.

Ma JZ, Beuten J, Payne TJ, Dupont RT, Elston RC, Li MD.

Hum Mol Genet. 2005 Jun 15;14(12):1691-8. Epub 2005 May 6.

PMID:
15879433
32.

Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence.

Li MD, Beuten J, Ma JZ, Payne TJ, Lou XY, Garcia V, Duenes AS, Crews KM, Elston RC.

Hum Mol Genet. 2005 May 1;14(9):1211-9. Epub 2005 Mar 24.

PMID:
15790597
33.

Single- and multilocus allelic variants within the GABA(B) receptor subunit 2 (GABAB2) gene are significantly associated with nicotine dependence.

Beuten J, Ma JZ, Payne TJ, Dupont RT, Crews KM, Somes G, Williams NJ, Elston RC, Li MD.

Am J Hum Genet. 2005 May;76(5):859-64. Epub 2005 Mar 9.

34.

Progress in searching for susceptibility loci and genes for smoking-related behaviour.

Li MD, Ma JZ, Beuten J.

Clin Genet. 2004 Nov;66(5):382-92. Review.

PMID:
15479180
35.

A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene.

Irobi J, Tissir F, De Jonghe P, De Vriendt E, Van Broeckhoven C, Timmerman V, Beuten J.

Genomics. 2000 Apr 1;65(1):34-43.

PMID:
10777663
36.

Construction of a PAC contig within the distal hereditary motor neuropathy type II candidate region at 12q24.

Irobi J, Timmerman V, De Jonghe P, De Vriendt E, Van Broeckhoven C, Beuten J.

Ann N Y Acad Sci. 1999 Sep 14;883:463-5. No abstract available.

PMID:
10586274
37.

Distal hereditary motor neuropathy type II (distal HMN type II): phenotype and molecular genetics.

Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, Van Broeckhoven C.

Ann N Y Acad Sci. 1999 Sep 14;883:60-4.

PMID:
10586231
38.

Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics.

Timmerman V, Beuten J, Irobi J, De Jonghe P, Martin JJ, VAN Broeckhoven C.

Ann N Y Acad Sci. 1999 Oct;883(1):60-64. doi: 10.1111/j.1749-6632.1999.tb08568.x.

PMID:
29086966
39.

Construction of a PAC Contig within the Distal Hereditary Motor Neuropathy Type II Candidate Region at 12q24.

Irobi J, Timmerman V, De Jonghe P, De Vriendt E, VAN Broeckhoven C, Beuten J.

Ann N Y Acad Sci. 1999 Oct;883(1):463-465. doi: 10.1111/j.1749-6632.1999.tb08611.x. No abstract available.

PMID:
29086955
40.

The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL.

Hum Mol Genet. 1999 Jan;8(1):129-35.

PMID:
9887341
41.

Mutation analysis of the human pancreatic phospholipase A2 gene in a family with distal hereditary motor neuropathy type II linked to 12q24.

Beuten J, De Vriendt E, De Jonghe P, Martin JJ, Van Broeckhoven C, Timmerman V.

Neurosci Lett. 1997 Feb 14;223(1):69-71.

PMID:
9058425
42.

Evolution of epilepsy and EEG findings in Angelman syndrome.

Laan LA, Renier WO, Arts WF, Buntinx IM, vd Burgt IJ, Stroink H, Beuten J, Zwinderman KH, van Dijk JG, Brouwer OF.

Epilepsia. 1997 Feb;38(2):195-9.

43.

Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

Timmerman V, De Jonghe P, Simokovic S, Löfgren A, Beuten J, Nelis E, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mol Genet. 1996 Jul;5(7):1065-9.

PMID:
8817349
44.

Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN.

Beuten J, Sutcliffe JS, Casey BM, Beaudet AL, Hennekam RC, Willems PJ.

Am J Med Genet. 1996 May 17;63(2):414-5. No abstract available.

PMID:
8725798
45.

Angelman syndrome in an inbred family.

Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ.

Hum Genet. 1996 Mar;97(3):294-8.

PMID:
8786067
46.

Clinical profile of Angelman syndrome at different ages.

Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP.

Am J Med Genet. 1995 Mar 27;56(2):176-83.

PMID:
7625442
47.

Molecular study of chromosome 15 in 22 patients with Angelman syndrome.

Beuten J, Mangelschots K, Buntinx I, Coucke P, Brouwer OF, Hennekam RC, Van Broeckhoven C, Willems PJ.

Hum Genet. 1993 Jan;90(5):489-95.

PMID:
8094063
48.

Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Willems PJ, Vits L, Raeymaekers P, Beuten J, Coucke P, Holden JJ, Van Broeckhoven C, Warren ST, Sagi M, Robinson D, et al.

Am J Hum Genet. 1992 Aug;51(2):307-15.

49.

Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis.

Mangelschots K, Van Roy B, Speleman F, Van Roy N, Gheuens J, Beuten J, Buntinx I, Van Thienen MN, Willekens H, Dumon J, et al.

Hum Genet. 1992 Jun;89(4):407-13.

PMID:
1352272

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