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Items: 36

1.

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.

Alfaro Arenas R, Rosell Andreo J, Heine Suñer D; Group for the study of FXS in the Balearic Islands.

J Genet Couns. 2017 Jun;26(3):501-510. doi: 10.1007/s10897-016-0005-3. Epub 2016 Oct 7.

PMID:
27714485
2.

Disrupted in schizophrenia 1 (DISC1) is a constituent of the mammalian mitochondrial contact site and cristae organizing system (MICOS) complex, and is essential for oxidative phosphorylation.

Piñero-Martos E, Ortega-Vila B, Pol-Fuster J, Cisneros-Barroso E, Ruiz-Guerra L, Medina-Dols A, Heine-Suñer D, Lladó J, Olmos G, Vives-Bauzà C.

Hum Mol Genet. 2016 Oct 1;25(19):4157-4169. doi: 10.1093/hmg/ddw250. Epub 2016 Jul 27.

3.

Fragile X syndrome screening in pregnant women and women planning pregnancy shows a remarkably high FMR1 premutation prevalence in the Balearic Islands.

Alfaro Arenas R, Rosell Andreo J, Heine Suñer D; Group for the study of FXS in the Balearic Islands.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1023-1031. doi: 10.1002/ajmg.b.32470. Epub 2016 Jun 22.

PMID:
27333191
4.

Gene network and familial analyses uncover a gene network involving Tbx5/Osr1/Pcsk6 interaction in the second heart field for atrial septation.

Zhang KK, Xiang M, Zhou L, Liu J, Curry N, Heine Suñer D, Garcia-Pavia P, Zhang X, Wang Q, Xie L.

Hum Mol Genet. 2016 Mar 15;25(6):1140-51. doi: 10.1093/hmg/ddv636. Epub 2016 Jan 6.

5.

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7.

6.

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome.

Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium.

Am J Hum Genet. 2015 May 7;96(5):753-64. doi: 10.1016/j.ajhg.2015.03.007. Epub 2015 Apr 16.

7.

Assessing the improvements in the newborn screening strategy for cystic fibrosis in the Balearic Islands.

Bauça JM, Morell-Garcia D, Vila M, Pérez G, Heine-Suñer D, Figuerola J.

Clin Biochem. 2015 Apr;48(6):419-24. doi: 10.1016/j.clinbiochem.2015.02.001. Epub 2015 Feb 11.

PMID:
25680858
8.

Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour.

Calvete O, Reyes J, Zuñiga S, Paumard-Hernández B, Fernández V, Bujanda L, Rodriguez-Pinilla MS, Palacios J, Heine-Suñer D, Banka S, Newman WG, Cañamero M, Pritchard DM, Benítez J.

Hum Mol Genet. 2015 May 15;24(10):2914-22. doi: 10.1093/hmg/ddv054. Epub 2015 Feb 11.

PMID:
25678551
9.

Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9.

Alemany-Schmidt A, Navarro-Palou M, Voltes-Cobo A, Rosell J, Heine-Suñer D, Picornell A, Oliver-Bonet M.

Mol Genet Genomic Med. 2014 Mar;2(2):201-3. doi: 10.1002/mgg3.56. No abstract available.

10.

Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci.

Flaquer A, Baumbach C, Piñero E, García Algas F, de la Fuente Sanchez MA, Rosell J, Toquero J, Alonso-Pulpon L, Garcia-Pavia P, Strauch K, Heine-Suñer D.

BMC Genet. 2013 May 24;14:44. doi: 10.1186/1471-2156-14-44.

11.

X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation.

Daza-Cajigal V, Martínez-Pomar N, Garcia-Alonso A, Heine-Suñer D, Torres S, Vega AK, Molina IJ, Matamoros N.

Blood Cells Mol Dis. 2013 Aug;51(2):125-9. doi: 10.1016/j.bcmd.2013.04.004. Epub 2013 May 18.

PMID:
23689198
12.

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon T, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Zackai E, Wang T, Shprintzen R, Emanuel BS, Morrow BE; International Chromosome 22q11.2 Consortium.

Am J Med Genet A. 2012 Nov;158A(11):2781-7. doi: 10.1002/ajmg.a.35512. Epub 2012 Oct 3.

13.

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.

Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Carpenter C, Zheng X, Johnson J, Chung J, Higgins AM, Philip N, Simon TJ, Coleman K, Heine-Suner D, Rosell J, Kates W, Devoto M, Goldmuntz E, Zackai E, Wang T, Shprintzen R, Emanuel B, Morrow B; International Chromosome 22q11.2 Consortium.

Hum Mutat. 2011 Nov;32(11):1278-89. doi: 10.1002/humu.21568. Epub 2011 Sep 16.

14.

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.

Barca-Tierno V, Aza-Carmona M, Barroso E, Heine-Suner D, Azmanov D, Rosell J, Ezquieta B, Montané LS, Vendrell T, Cruz J, Santos F, Rodríguez JI, Pozo J, Argente J, Kalaydjieva L, Gracía R, Campos-Barros A, Benito-Sanz S, Heath KE.

Eur J Hum Genet. 2011 Dec;19(12):1218-25. doi: 10.1038/ejhg.2011.128. Epub 2011 Jun 29.

15.

[Familial approach in hereditary transthyretin cardiac amyloidosis].

García-Pavía P, Avellana P, Bornstein B, Heine-Suñer D, Cobo-Marcos M, Gómez-Bueno M, Segovia J, Alonso-Pulpón LA.

Rev Esp Cardiol. 2011 Jun;64(6):523-6. doi: 10.1016/j.recesp.2010.10.018. Epub 2011 Mar 24. Spanish.

16.

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE.

J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8.

PMID:
21147883
17.

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

Fernández L, Nevado J, Santos F, Heine-Suñer D, Martinez-Glez V, García-Miñaur S, Palomo R, Delicado A, Pajares IL, Palomares M, García-Guereta L, Valverde E, Hawkins F, Lapunzina P.

BMC Med Genet. 2009 Jun 2;10:48. doi: 10.1186/1471-2350-10-48. Review.

18.

Association of monoclonal expansion of Epstein-Barr virus-negative CD158a+ NK cells secreting large amounts of gamma interferon with hemophagocytic lymphohistiocytosis.

López-Alvarez MR, Martínez-Sánchez MV, Salgado-Cecilia MG, Campillo JA, Heine-Suñer D, Villar-Permuy F, Fuster JL, Bas A, Gil-Herrera J, Muro M, García-Alonso AM, Alvarez-López MR, Minguela A.

Clin Vaccine Immunol. 2009 Jan;16(1):142-5. doi: 10.1128/CVI.00358-08. Epub 2008 Nov 19.

19.

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A.

Am J Med Genet A. 2008 May 1;146A(9):1134-41. doi: 10.1002/ajmg.a.32256.

PMID:
18384142
20.

Angiotensin-converting-enzyme gene polymorphisms, smoking and chronic obstructive pulmonary disease.

Busquets X, MacFarlane NG, Heine-Suñer D, Morlá M, Torres-Juan L, Iglesias A, Lladó J, Sauleda J, Agustí AG.

Int J Chron Obstruct Pulmon Dis. 2007;2(3):329-34.

21.

Gene symbol: SRY.

Heine-Suñer D, Torres-Juan L, Gómez C, Pérez-Granero A, Bernues M, Govea N, Roseli J.

Hum Genet. 2007 Feb;120(6):909. No abstract available.

PMID:
17438599
22.

Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications.

Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.

BMC Med Genet. 2007 Apr 2;8:14.

23.

Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.

Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D.

Eur J Hum Genet. 2007 Jun;15(6):658-63. Epub 2007 Mar 21.

24.

Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.

Alonso MJ, Heine-Suñer D, Calvo M, Rosell J, Giménez J, Ramos MD, Telleria JJ, Palacio A, Estivill X, Casals T.

Ann Hum Genet. 2007 Mar;71(Pt 2):194-201.

25.

A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency.

Martinez-Pomar N, Munoz-Saa I, Heine-Suner D, Martin A, Smahi A, Matamoros N.

Hum Genet. 2005 Dec;118(3-4):458-65. Epub 2005 Oct 14.

PMID:
16228229
26.

Epigenetic differences arise during the lifetime of monozygotic twins.

Fraga MF, Ballestar E, Paz MF, Ropero S, Setien F, Ballestar ML, Heine-Suñer D, Cigudosa JC, Urioste M, Benitez J, Boix-Chornet M, Sanchez-Aguilera A, Ling C, Carlsson E, Poulsen P, Vaag A, Stephan Z, Spector TD, Wu YZ, Plass C, Esteller M.

Proc Natl Acad Sci U S A. 2005 Jul 26;102(30):10604-9. Epub 2005 Jul 11.

27.

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.

Sabherwal N, Blaschke RJ, Marchini A, Heine-Suner D, Rosell J, Ferragut J, Blum WF, Rappold G.

J Med Genet. 2004 Jun;41(6):e83. No abstract available.

28.

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

Heine-Suñer D, Torres-Juan L, Morlà M, Busquets X, Barceló F, Picó G, Bonilla L, Govea N, Bernués M, Rosell J.

Am J Med Genet A. 2003 Oct 1;122A(2):108-14.

PMID:
12955761
29.

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Lorda-Sanchez I, Sanz R, Diaz-Guillen MA, Fernandez-Toral J, Heine-Suñer D, Rodriguez De Alba M, Gonzalez-Gonzalez C, Trujillo MJ, Ramos C, Rodriguez De Cordoba S, Ayuso C.

Genet Couns. 2002;13(2):171-7.

PMID:
12150218
30.

An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32.

Rodríguez de Córdoba S, Díaz-Guillén MA, Heine-Suñer D.

Mol Immunol. 1999 Sep-Oct;36(13-14):803-8. No abstract available.

PMID:
10698333
31.

A radiation hybrid map of complement factor H and factor H-related genes.

Díaz-Guillén MA, Rodríguez de Córdoba S, Heine-Suñer D.

Immunogenetics. 1999 Jun;49(6):549-52. No abstract available.

PMID:
10380701
32.

Sequence and structure of the human 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase heart isoform gene (PFKFB2).

Heine-Suñer D, Díaz-Guillén MA, Lange AJ, Rodríguez de Córdoba S.

Eur J Biochem. 1998 May 15;254(1):103-10.

33.

A region of allelic imbalance in 1q31-32 in primary breast cancer coincides with a recombination hot spot.

Benítez J, Osorio A, Barroso A, Arranz E, Díaz-Guillén MA, Robledo M, Rodríguez de Córdoba S, Heine-Suñer D.

Cancer Res. 1997 Oct 1;57(19):4217-20. Erratum in: Cancer Res 1998 Oct 1;58(19):4480.

34.

Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.

Espinosa-Parrilla Y, Morell M, Souto JC, Borrell M, Heine-Suñer D, Tirado I, Volpini V, Estivill X, Sala N.

Blood. 1997 Apr 15;89(8):2799-806.

35.

A high-resolution map of the regulator of the complement activation gene cluster on 1q32 that integrates new genes and markers.

Heine-Suñer D, Díaz-Guillén MA, de Villena FP, Robledo M, Benítez J, Rodríguez de Córdoba S.

Immunogenetics. 1997;45(6):422-7.

PMID:
9089100
36.

Ordering of the human regulator of complement activation gene cluster on 1q32 by two-colour FISH.

Pardo-Manuel de Villena F, Heine-Suñer D, Rodriguez de Cordoba S.

Cytogenet Cell Genet. 1996;72(4):339-41.

PMID:
8641143

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