Gracia R - Search Results

1

The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population.

Gutierrez S, Magano L, Delicado A, Mori MA, de Torres ML, Fernández L, Palomares M, Fernández E, Tarduchy GR, Molano J, Gracia R, Pajares IL, Lapunzina P. Gutierrez S, et al. Among authors: gracia r. Am J Med Genet A. 2006 Dec 15;140(24):2832-3. doi: 10.1002/ajmg.a.31532. Am J Med Genet A. 2006. PMID: 17103452 No abstract available.

2

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.

Martínez-Glez V, Romanelli V, Mori MA, Gracia R, Segovia M, González-Meneses A, López-Gutierrez JC, Gean E, Martorell L, Lapunzina P. Martínez-Glez V, et al. Among authors: gracia r. Am J Med Genet A. 2010 Dec;152A(12):3101-6. doi: 10.1002/ajmg.a.33514. Am J Med Genet A. 2010. PMID: 21077203

3

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.

Romanelli V, Nevado J, Fraga M, Trujillo AM, Mori MÁ, Fernández L, Pérez de Nanclares G, Martínez-Glez V, Pita G, Meneses H, Gracia R, García-Miñaur S, García de Miguel P, Lecumberri B, Rodríguez JI, González Neira A, Monk D, Lapunzina P. Romanelli V, et al. Among authors: gracia r. J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19. J Med Genet. 2011. PMID: 21097775

4

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

Rodríguez-Criado G, Magano L, Segovia M, Gurrieri F, Neri G, González-Meneses A, Gómez de Terreros I, Valdéz R, Gracia R, Lapunzina P. Rodríguez-Criado G, et al. Among authors: gracia r. Am J Med Genet A. 2005 Oct 15;138A(3):272-7. doi: 10.1002/ajmg.a.30920. Am J Med Genet A. 2005. PMID: 16158429

5

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.

Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.

6

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. Benito-Sanz S, et al. Among authors: gracia r. J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147883

7

CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients.

Romanelli V, Belinchón A, Campos-Barros A, Heath KE, García-Miñaur S, Martínez-Glez V, Palomo R, Mercado G, Gracia R, Lapunzina P. Romanelli V, et al. Among authors: gracia r. Placenta. 2009 Jun;30(6):551-4. doi: 10.1016/j.placenta.2009.03.013. Epub 2009 Apr 21. Placenta. 2009. PMID: 19386358

8

Analysis of steroid 21-hydroxylase gene mutations in the Spanish population.

Ezquieta B, Oliver A, Gracia R, Gancedo PG. Ezquieta B, et al. Among authors: gracia r. Hum Genet. 1995 Aug;96(2):198-204. doi: 10.1007/BF00207379. Hum Genet. 1995. PMID: 7635470

9

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer.

Benito-Sanz S, Royo JL, Barroso E, Paumard-Hernández B, Barreda-Bonis AC, Liu P, Gracía R, Lupski JR, Campos-Barros Á, Gómez-Skarmeta JL, Heath KE. Benito-Sanz S, et al. Among authors: gracia r. J Med Genet. 2012 Jul;49(7):442-50. doi: 10.1136/jmedgenet-2011-100678. J Med Genet. 2012. PMID: 22791839

10

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).

Barroso E, Benito-Sanz S, Belinchón A, Yuste-Checa P, Gracia R, Aragones A, Campos-Barros A, Heath KE. Barroso E, et al. Among authors: gracia r. Eur J Med Genet. 2010 Jul-Aug;53(4):204-7. doi: 10.1016/j.ejmg.2010.04.003. Epub 2010 Apr 20. Eur J Med Genet. 2010. PMID: 20412871

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