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Items: 1 to 50 of 56

1.

Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.

Ramírez-Velazco A, Aguayo-Orozco TA, Figuera L, Rivera H, Jave-Suárez L, Aguilar-Lemarroy A, Torres-Reyes LA, Córdova-Fletes C, Barros-Núñez P, Delgadillo-Pérez S, Dávalos-Rodríguez IP, García-Ortiz JE, Domínguez MG.

J Genet. 2019 Jun;98(1). pii: 3.

2.

22q11.2 deletion detected by in situ hybridization in Mexican patients with velocardiofacial syndrome-like features.

Ramírez-Velazco A, Rivera H, Vásquez-Velázquez AI, Aguayo-Orozco TA, Delgadillo-Pérez S, Domínguez MG.

Colomb Med (Cali). 2018 Sep 30;49(3):219-222. doi: 10.25100/cm.v49i2.3402.

3.

Circulating Metabolic Biomarkers of Screen-Detected Prostate Cancer in the ProtecT Study.

Adams CD, Richmond R, Ferreira DLS, Spiller W, Tan V, Zheng J, Würtz P, Donovan J, Hamdy F, Neal D, Lane JA, Smith GD, Relton C, Eeles RA, Haiman CA, Kote-Jarai Z, Schumacher FR, Olama AAA, Benlloch S, Muir K, Berndt SI, Conti DV, Wiklund F, Chanock SJ, Gapstur S, Stevens VL, Tangen CM, Batra J, Clements JA, Gronberg H, Pashayan N, Schleutker J, Albanes D, Wolk A, West CML, Mucci LA, Cancel-Tassin G, Koutros S, Sorensen KD, Maehle L, Travis RC, Hamilton RJ, Ingles SA, Rosenstein BS, Lu YJ, Giles GG, Kibel AS, Vega A, Kogevinas M, Penney KL, Park JY, Stanford JL, Cybulski C, Nordestgaard BG, Brenner H, Maier C, Kim J, John EM, Teixeira MR, Neuhausen SL, De Ruyck K, Razack A, Newcomb LF, Lessel D, Kaneva RP, Usmani N, Claessens F, Townsend PA, Dominguez MG, Roobol MJ, Menegaux F, Khaw KT, Cannon-Albright LA, Pandha H, Thibodeau SN, Martin RM; PRACTICAL consortium.

Cancer Epidemiol Biomarkers Prev. 2019 Jan;28(1):208-216. doi: 10.1158/1055-9965.EPI-18-0079. Epub 2018 Oct 23.

PMID:
30352818
4.

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.

Tan TY, Gonzaga-Jauregui C, Bhoj EJ, Strauss KA, Brigatti K, Puffenberger E, Li D, Xie L, Das N, Skubas I, Deckelbaum RA, Hughes V, Brydges S, Hatsell S, Siao CJ, Dominguez MG, Economides A, Overton JD, Mayne V, Simm PJ, Jones BO, Eggers S, Le Guyader G, Pelluard F, Haack TB, Sturm M, Riess A, Waldmueller S, Hofbeck M, Steindl K, Joset P, Rauch A, Hakonarson H, Baker NL, Farlie PG.

Am J Hum Genet. 2017 Dec 7;101(6):985-994. doi: 10.1016/j.ajhg.2017.10.006. Epub 2017 Nov 30.

5.

Two familial intrachromosomal insertions with maternal dup(6)(p22.3p25.3) or dup(2)(q24.2q32.1) in recombinant offspring.

Domínguez MG, Rivera H, Aguilar-Lemarroy A, Jave-Suarez LF, Ramírez-Velazco A, González-Ramos IA, Barros-Núñez P, Partida-Pérez M, Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Figuera LE.

Clin Dysmorphol. 2017 Oct;26(4):209-216. doi: 10.1097/MCD.0000000000000191.

PMID:
28737552
6.

Expression of receptor-type protein tyrosine phosphatase in developing and adult renal vasculature.

Takahashi K, Kim R, Lauhan C, Park Y, Nguyen NG, Vestweber D, Dominguez MG, Valenzuela DM, Murphy AJ, Yancopoulos GD, Gale NW, Takahashi T.

PLoS One. 2017 May 25;12(5):e0177192. doi: 10.1371/journal.pone.0177192. eCollection 2017.

7.

Toward better understanding of postharvest deterioration: biochemical changes in stored cassava (Manihot esculenta Crantz) roots.

Uarrota VG, Nunes Eda C, Peruch LA, Neubert Ede O, Coelho B, Moresco R, Domínguez MG, Sánchez T, Meléndez JL, Dufour D, Ceballos H, Becerra Lopez-Lavalle LA, Hershey C, Rocha M, Maraschin M.

Food Sci Nutr. 2015 Oct 26;4(3):409-22. doi: 10.1002/fsn3.303. eCollection 2016 May.

8.

DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION?

Rivera H, Domínguez MG.

Genet Couns. 2016;27(4):529-531. No abstract available.

PMID:
30226975
9.

Loss of SFRP4 Alters Body Size, Food Intake, and Energy Expenditure in Diet-Induced Obese Male Mice.

Mastaitis J, Eckersdorff M, Min S, Xin Y, Cavino K, Aglione J, Okamoto H, Na E, Stitt T, Dominguez MG, Schmahl JP, Lin C, Gale NW, Valenzuela DM, Murphy AJ, Yancopoulos GD, Gromada J.

Endocrinology. 2015 Dec;156(12):4502-10. doi: 10.1210/en.2015-1257. Epub 2015 Sep 25.

PMID:
26406932
10.

A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.

Córdova-Fletes C, Domínguez MG, Delint-Ramirez I, Martínez-Rodríguez HG, Rivas-Estilla AM, Barros-Núñez P, Ortiz-López R, Neira VA.

Neurogenetics. 2015 Oct;16(4):287-98. doi: 10.1007/s10048-015-0452-2. Epub 2015 Jul 11.

PMID:
26163108
11.

[Morphological and molecular identification of Cysticercus fasciolaris isolated from rodent hosts (Rattus norvegicus) in Buenos Aires province (Argentina)].

Martínez ML, Domínguez MG, Morici GE, Cavia R, Montes de Oca DP, Lovera R, Schapiro JH, Caracostantogolo JL.

Rev Argent Microbiol. 2013 Jul-Sep;45(3):150-3. Spanish.

12.

Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome.

Salinas-Torres VM, Domínguez MG, Ornelas-Arana ML, Rivera H.

Genet Couns. 2013;24(2):239-42. No abstract available.

PMID:
24032296
13.

Conditionals by inversion provide a universal method for the generation of conditional alleles.

Economides AN, Frendewey D, Yang P, Dominguez MG, Dore AT, Lobov IB, Persaud T, Rojas J, McClain J, Lengyel P, Droguett G, Chernomorsky R, Stevens S, Auerbach W, Dechiara TM, Pouyemirou W, Cruz JM Jr, Feeley K, Mellis IA, Yasenchack J, Hatsell SJ, Xie L, Latres E, Huang L, Zhang Y, Pefanis E, Skokos D, Deckelbaum RA, Croll SD, Davis S, Valenzuela DM, Gale NW, Murphy AJ, Yancopoulos GD.

Proc Natl Acad Sci U S A. 2013 Aug 20;110(34):E3179-88. doi: 10.1073/pnas.1217812110. Epub 2013 Aug 5.

14.

De novo dup p/del q or dup q/del p rearranged chromosomes: review of 104 cases of a distinct chromosomal mutation.

Rivera H, Domínguez MG, Vásquez-Velásquez AI, Lurie IW.

Cytogenet Genome Res. 2013;141(1):58-63. doi: 10.1159/000351184. Epub 2013 May 30.

PMID:
23735430
15.

A de novo sSMC(22) Characterized by High-Resolution Arrays in a Girl with Cat-Eye Syndrome without Coloboma.

Córdova-Fletes C, Domínguez MG, Vázquez-Cárdenas A, Figuera LE, Neira VA, Rojas-Martínez A, Ortiz-López R.

Mol Syndromol. 2012 Sep;3(3):131-135. Epub 2012 Aug 1.

16.

De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.

Partida-Pérez M, Domínguez MG, Neira VA, Figuera LE, Rivera H.

J Genet. 2012 Aug;91(2):241-4. No abstract available.

17.

Pure duplication 21q21.2-->qter due to a rea(21) in a Down syndrome girl. Remarks on nomenclature.

Dominguez MG, Arteaga-Alcaraz G, Rivera H.

Genet Couns. 2012;23(2):313-8.

PMID:
22876592
18.

A familial rearrangement(3;5;9) with paternal and maternal transmission leading to a duplication 3p/ deletion 5p infant.

Rivera H, Domínguez MG.

Clinics (Sao Paulo). 2012;67(6):669-72. No abstract available.

19.

Variegated-like mosaicism and ring syndrome in a r(4) boy. Appraisal of 38 patients with a fairly complete ring 4.

Domínguez MG, Barros-Núñez P, González-Ramos IA, Rivera H.

Genet Couns. 2010;21(4):411-22. Erratum in: Genet Couns. 2011;22(1):85.

PMID:
21290971
20.

Angiogenic sprouting into neural tissue requires Gpr124, an orphan G protein-coupled receptor.

Anderson KD, Pan L, Yang XM, Hughes VC, Walls JR, Dominguez MG, Simmons MV, Burfeind P, Xue Y, Wei Y, Macdonald LE, Thurston G, Daly C, Lin HC, Economides AN, Valenzuela DM, Murphy AJ, Yancopoulos GD, Gale NW.

Proc Natl Acad Sci U S A. 2011 Feb 15;108(7):2807-12. doi: 10.1073/pnas.1019761108. Epub 2011 Jan 31.

21.

Assessing glycaemic variability with continuous glucose monitoring system before and after continuous subcutaneous insulin infusion in people with Type 1 diabetes.

Chimenti EM, de la Morena LH, Vaquero PM, Sáez-de-Ibarra L, Domínguez MG, Sánchez LF.

Diabetes Res Clin Pract. 2010 Dec;90(3):e57-9. doi: 10.1016/j.diabres.2010.08.016. Epub 2010 Sep 19.

PMID:
20855123
22.

Variegated aneuploidy and ring chromosome syndromes overlap.

Rivera H, Domínguez MG.

Am J Med Genet A. 2010 Jan;152A(1):228-9. doi: 10.1002/ajmg.a.33195. No abstract available.

PMID:
20034077
23.

Embryonic stem cell tumor model reveals role of vascular endothelial receptor tyrosine phosphatase in regulating Tie2 pathway in tumor angiogenesis.

Li Z, Huang H, Boland P, Dominguez MG, Burfeind P, Lai KM, Lin HC, Gale NW, Daly C, Auerbach W, Valenzuela D, Yancopoulos GD, Thurston G.

Proc Natl Acad Sci U S A. 2009 Dec 29;106(52):22399-404. doi: 10.1073/pnas.0911189106. Epub 2009 Dec 15.

24.

CDKL5 truncation due to a t(X;2)(p22.1;p25.3) in a girl with X-linked infantile spasm syndrome.

Córdova-Fletes C, Rademacher N, Müller I, Mundo-Ayala JN, Morales-Jeanhs EA, García-Ortiz JE, León-Gil A, Rivera H, Domínguez MG, Kalscheuer VM.

Clin Genet. 2010 Jan;77(1):92-6. doi: 10.1111/j.1399-0004.2009.01286.x. Epub 2009 Oct 5. No abstract available.

PMID:
19807736
25.

Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication.

Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM.

Am J Med Genet A. 2009 Jul;149A(7):1516-22. doi: 10.1002/ajmg.a.32906.

PMID:
19533774
26.

Interstitial 1q42-q44 deletion defined by FISH in a short-lived female.

Córdova-Fletes C, Domínguez MG, Díaz-Rodríguez M, Ramírez-Dueñas ML, Rivera H.

Genet Couns. 2008;19(1):65-9.

PMID:
18564503
27.

A de novo (1;2;3;15;18) chromosome rearrangement with six nonreciprocal translocations.

Rivera H, Domínguez MG, Crolla JA, Harrison CJ, Jalali GR.

Genet Couns. 2007;18(3):289-93.

PMID:
18019369
28.

How exhaustive are reviews in research review articles?

Rivera H, Domínguez MG.

Am J Med Genet A. 2007 Jun 1;143A(11):1256-7; author reply 1258-9. No abstract available.

PMID:
17431917
29.

Centromeric association of a microchromosome Y in two male patients.

Domínguez MG, Vásquez AI, Troyo R, Ortiz-Aranda M, Padilla JR, Hernández-Zaragoza G, Rivas F, Rivera H.

Genet Couns. 2006;17(4):413-9.

PMID:
17375527
30.
31.

Vascular endothelial tyrosine phosphatase (VE-PTP)-null mice undergo vasculogenesis but die embryonically because of defects in angiogenesis.

Dominguez MG, Hughes VC, Pan L, Simmons M, Daly C, Anderson K, Noguera-Troise I, Murphy AJ, Valenzuela DM, Davis S, Thurston G, Yancopoulos GD, Gale NW.

Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3243-8. Epub 2007 Feb 21.

32.

F0 generation mice fully derived from gene-targeted embryonic stem cells allowing immediate phenotypic analyses.

Poueymirou WT, Auerbach W, Frendewey D, Hickey JF, Escaravage JM, Esau L, Doré AT, Stevens S, Adams NC, Dominguez MG, Gale NW, Yancopoulos GD, DeChiara TM, Valenzuela DM.

Nat Biotechnol. 2007 Jan;25(1):91-9. Epub 2006 Dec 24.

PMID:
17187059
33.

Normal lymphatic development and function in mice deficient for the lymphatic hyaluronan receptor LYVE-1.

Gale NW, Prevo R, Espinosa J, Ferguson DJ, Dominguez MG, Yancopoulos GD, Thurston G, Jackson DG.

Mol Cell Biol. 2007 Jan;27(2):595-604. Epub 2006 Nov 13.

34.

Constitutional duplication 11q23 de novo involving the MLL gene.

Partida-Pérez M, Domínguez MG, Sánchez-Corona J, Castañeda-Cisneros G, García-González CL, López-Cardona MG, Rivera H.

Genet Couns. 2006;17(2):155-9.

PMID:
16970032
35.

Haploinsufficiency of delta-like 4 ligand results in embryonic lethality due to major defects in arterial and vascular development.

Gale NW, Dominguez MG, Noguera I, Pan L, Hughes V, Valenzuela DM, Murphy AJ, Adams NC, Lin HC, Holash J, Thurston G, Yancopoulos GD.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15949-54. Epub 2004 Nov 1.

36.

Topology of constitutional reciprocal translocations in metaphase.

Domínguez MG, Troyo R, Vásquez AI, Ramos AL, Rivera H.

Ann Genet. 2004 Jan-Mar;47(1):85-93.

PMID:
15050878
37.

Bovine herpes virus gD protein produced in plants using a recombinant tobacco mosaic virus (TMV) vector possesses authentic antigenicity.

Pérez Filgueira DM, Zamorano PI, Domínguez MG, Taboga O, Del Médico Zajac MP, Puntel M, Romera SA, Morris TJ, Borca MV, Sadir AM.

Vaccine. 2003 Oct 1;21(27-30):4201-9.

PMID:
14505899
38.

Pure partial trisomy 6p due to a familial insertion (16;6)(p12;p21.2p23).

Domínguez MG, Wong-Ley LE, Rivera H, Vásquez AI, Ramos AL, Sánchez-Urbina R, Morales JA, Figuera LE.

Ann Genet. 2003 Jan-Mar;46(1):45-8.

PMID:
12818529
39.

High-throughput engineering of the mouse genome coupled with high-resolution expression analysis.

Valenzuela DM, Murphy AJ, Frendewey D, Gale NW, Economides AN, Auerbach W, Poueymirou WT, Adams NC, Rojas J, Yasenchak J, Chernomorsky R, Boucher M, Elsasser AL, Esau L, Zheng J, Griffiths JA, Wang X, Su H, Xue Y, Dominguez MG, Noguera I, Torres R, Macdonald LE, Stewart AF, DeChiara TM, Yancopoulos GD.

Nat Biotechnol. 2003 Jun;21(6):652-9. Epub 2003 May 5.

PMID:
12730667
40.

Interchange trisomy 21 by t(1;21)(p22;q22)mat.

Dominguez MG, Rivera H, Vasquez AI, Hernández-Zaragoza G, Rivas F.

Genet Couns. 2001;12(4):363-7.

PMID:
11837606
41.

In search of a 9q13 latent centromere in 9qh polymorphic inversions.

Gutiérrez-Angulo M, Vásquez AI, Ramos AL, Domínguez MG, González-García JR, Rivera H.

Genet Couns. 2001;12(4):359-62.

PMID:
11837605
43.

Rescue of the colony-stimulating factor 1 (CSF-1)-nullizygous mouse (Csf1(op)/Csf1(op)) phenotype with a CSF-1 transgene and identification of sites of local CSF-1 synthesis.

Ryan GR, Dai XM, Dominguez MG, Tong W, Chuan F, Chisholm O, Russell RG, Pollard JW, Stanley ER.

Blood. 2001 Jul 1;98(1):74-84.

44.

The Cbl protooncoprotein stimulates CSF-1 receptor multiubiquitination and endocytosis, and attenuates macrophage proliferation.

Lee PS, Wang Y, Dominguez MG, Yeung YG, Murphy MA, Bowtell DD, Stanley ER.

EMBO J. 1999 Jul 1;18(13):3616-28.

45.
46.
47.
48.

C-anaphases (common variant) are unrelated to colchicine and phytohemagglutinin.

Domínguez MG, Rivera H, Troyo R.

Arch Med Res. 1997 Spring;28(1):25-7.

PMID:
9078583
49.

A further microchromosome with centromeric association.

Rivera H, Dominguez MG, Vasquez AI, Mejia-Baltodano G.

Genet Couns. 1997;8(4):323-6.

PMID:
9457502
50.

A heteromorphic protein-tyrosine phosphatase, PTP phi, is regulated by CSF-1 in macrophages.

Pixley FJ, Lee PS, Dominguez MG, Einstein DB, Stanley ER.

J Biol Chem. 1995 Nov 10;270(45):27339-47.

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