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Items: 1 to 50 of 55

1.

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation (CM-AVM).

Gordo G, Rodriguez-Laguna L, Agra N, Mendez P, Feito M, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Clin Genet. 2019 Jan 11. doi: 10.1111/cge.13499. [Epub ahead of print]

PMID:
30635911
2.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V.

J Exp Med. 2018 Dec 27. pii: jem.20181353. doi: 10.1084/jem.20181353. [Epub ahead of print]

PMID:
30591517
3.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15.

PMID:
29446767
4.

Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.

Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G.

Eur J Hum Genet. 2018 Feb;26(2):210-219. doi: 10.1038/s41431-017-0010-5. Epub 2018 Jan 18.

PMID:
29348693
5.

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.

Ibarra-Ramirez M, Campos-Acevedo LD, Lugo-Trampe J, Martínez-Garza LE, Martinez-Glez V, Valencia-Benitez M, Lapunzina P, Ruiz-Peréz V.

Am J Case Rep. 2017 Dec 12;18:1325-1329.

6.

In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype.

Fernández L, Tenorio J, Polo-Vaquero C, Vallespín E, Palomares-Bralo M, García-Miñaúr S, Santos-Simarro F, Arias P, Carnicer H, Giannivelli S, Medina J, Pérez-Piaya R, Solís J, Rodríguez M, Villagrá A, Rodríguez L, Nevado J, Martínez-Glez V, Heath KE, Lapunzina P.

Rev Esp Cardiol (Engl Ed). 2018 Jul;71(7):545-552. doi: 10.1016/j.rec.2017.10.013. Epub 2017 Nov 14. English, Spanish.

PMID:
29146485
7.

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P.

Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13.

8.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. No abstract available.

PMID:
28640240
9.

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.

Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK.

Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31.

10.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

11.

Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.

Tenorio J, Romanelli V, Martin-Trujillo A, Fernández GM, Segovia M, Perandones C, Pérez Jurado LA, Esteller M, Fraga M, Arias P, Gordo G, Dapía I, Mena R, Palomares M, Pérez de Nanclares G, Nevado J, García-Miñaur S, Santos-Simarro F, Martinez-Glez V, Vallespín E; SOGRI Consortium, Monk D, Lapunzina P.

Am J Med Genet A. 2016 Oct;170(10):2740-9. doi: 10.1002/ajmg.a.37852. Epub 2016 Aug 2.

PMID:
27480579
12.

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.

Cabral de Almeida Cardoso L, Rodriguez-Laguna L, Del Carmen Crespo M, Vallespín E, Palomares-Bralo M, Martin-Arenas R, Rueda-Arenas I, Silvestre de Faria PA; GT-CSGP Working Group, García-Miguel P, Lapunzina P, Regla Vargas F, Seuanez HN, Martínez-Glez V.

PLoS One. 2015 Aug 28;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015.

13.

Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization.

García-Santiago FA, Martínez-Glez V, Santos F, García-Miñaur S, Mansilla E, Meneses AG, Rosell J, Granero ÁP, Vallespín E, Fernández L, Sierra B, Oliver-Bonet M, Palomares M, de Torres ML, Mori MÁ, Nevado J, Heath KE, Delicado A, Lapunzina P.

Am J Med Genet A. 2015 May;167A(5):1018-25. doi: 10.1002/ajmg.a.36879. Epub 2015 Feb 25.

PMID:
25712135
14.

Simpson-Golabi-Behmel syndrome types I and II.

Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P.

Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Review.

15.

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PMID:
25196541
16.

Impact of NGS in the medical sciences: Genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies.

Lapunzina P, López RO, Rodríguez-Laguna L, García-Miguel P, Martínez AR, Martínez-Glez V.

Genet Mol Biol. 2014 Mar;37(1 Suppl):241-9. Review.

17.

New microdeletion and microduplication syndromes: A comprehensive review.

Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P.

Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. Review.

18.

Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis.

Casado-Verrier B, Feito-Rodriguez M, Noval S, Martínez-Glez V, Lapunzina P, De Lucas-Laguna R.

Clin Exp Dermatol. 2014 Jun;39(4):557-9. doi: 10.1111/ced.12306. Epub 2014 Apr 8. No abstract available. Erratum in: Clin Exp Dermatol. 2015 Jun;40(4):471.

PMID:
24708049
19.

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

Valencia M, Caparrós-Martin JA, Sirerol-Piquer MS, García-Verdugo JM, Martínez-Glez V, Lapunzina P, Temtamy S, Aglan M, Lund AM, Nikkels PG, Ruiz-Perez VL, Ostergaard E.

Am J Med Genet A. 2014 May;164A(5):1143-50. doi: 10.1002/ajmg.a.36427. Epub 2014 Mar 19.

PMID:
24648371
20.

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Guillén-Navarro E, Ballesta-Martínez MJ, Valencia M, Bueno AM, Martinez-Glez V, López-González V, Burnyte B, Utkus A, Lapunzina P, Ruiz-Perez VL.

Am J Med Genet A. 2014 May;164A(5):1136-42. doi: 10.1002/ajmg.a.36409. Epub 2014 Jan 29.

PMID:
24478195
21.

Gene expression analysis of aberrant signaling pathways in meningiomas.

Torres-Martín M, Martinez-Glez V, Peña-Granero C, Isla A, Lassaletta L, DE Campos JM, Pinto GR, Burbano RR, Meléndez B, Castresana JS, Rey JA.

Oncol Lett. 2013 Jul;6(1):275-279. Epub 2013 May 23.

22.

Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

Vallespín E, Palomares Bralo M, Mori MÁ, Martín R, García-Miñaúr S, Fernández L, de Torres ML, García-Santiago F, Mansilla E, Santos F, M-Montaño VE, Crespo MC, Martín S, Martínez-Glez V, Delicado A, Lapunzina P, Nevado J.

Am J Med Genet A. 2013 Aug;161A(8):1950-60. doi: 10.1002/ajmg.a.35960. Epub 2013 Jun 24.

PMID:
23798500
23.

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.

Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, Amr K, Farra C, Lapunzina P, Ruiz-Perez VL, Temtamy S, Aglan M.

Am J Med Genet A. 2013 Jun;161A(6):1354-69. doi: 10.1002/ajmg.a.35938. Epub 2013 Apr 23.

PMID:
23613367
24.

Expression analysis of tumor-related genes involved in critical regulatory pathways in schwannomas.

Torres-Martín M, Martinez-Glez V, Peña-Granero C, Lassaletta L, Isla A, de Campos JM, Pinto GR, Burbano RR, Meléndez B, Castresana JS, Rey JA.

Clin Transl Oncol. 2013 May;15(5):409-11. doi: 10.1007/s12094-012-0937-5. Epub 2012 Oct 2.

PMID:
23054753
25.

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Puig-Hervás MT, Temtamy S, Aglan M, Valencia M, Martínez-Glez V, Ballesta-Martínez MJ, López-González V, Ashour AM, Amr K, Pulido V, Guillén-Navarro E, Lapunzina P, Caparrós-Martín JA, Ruiz-Perez VL.

Hum Mutat. 2012 Oct;33(10):1444-9. doi: 10.1002/humu.22133. Epub 2012 Jul 5.

PMID:
22689593
26.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

Martínez-Glez V, Valencia M, Caparrós-Martín JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL.

Hum Mutat. 2012 Feb;33(2):343-50. doi: 10.1002/humu.21647. Epub 2011 Nov 30.

27.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, Ruiz-Perez VL, Lynch SA, Sharkey FH, Thuresson AC, Annerén G, Belligni EF, Martínez-Fernández ML, Bermejo E, Nowakowska B, Kutkowska-Kazmierczak A, Bocian E, Obersztyn E, Martínez-Frías ML, Hennekam RC, Lapunzina P.

Am J Hum Genet. 2011 Aug 12;89(2):295-301. doi: 10.1016/j.ajhg.2011.06.012. Epub 2011 Jul 28.

28.

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.

Romanelli V, Meneses HN, Fernández L, Martínez-Glez V, Gracia-Bouthelier R, F Fraga M, Guillén E, Nevado J, Gean E, Martorell L, Marfil VE, García-Miñaur S, Lapunzina P.

Eur J Hum Genet. 2011 Apr;19(4):416-21. doi: 10.1038/ejhg.2010.236. Epub 2011 Jan 19.

29.

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.

J Med Genet. 2011 Mar;48(3):212-6. doi: 10.1136/jmg.2010.081919. Epub 2010 Nov 19.

PMID:
21097775
30.

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.

Am J Med Genet A. 2010 Dec;152A(12):3101-6. doi: 10.1002/ajmg.a.33514.

PMID:
21077203
31.

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL.

Am J Hum Genet. 2010 Jul 9;87(1):110-4. doi: 10.1016/j.ajhg.2010.05.016. Epub 2010 Jun 24.

32.

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P.

Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review.

PMID:
20503313
33.

Genomic deletions at 1p and 14q are associated with an abnormal cDNA microarray gene expression pattern in meningiomas but not in schwannomas.

Martínez-Glez V, Alvarez L, Franco-Hernández C, Torres-Martin M, de Campos JM, Isla A, Vaquero J, Lassaletta L, Castresana JS, Casartelli C, Rey JA.

Cancer Genet Cytogenet. 2010 Jan 1;196(1):1-6. doi: 10.1016/j.cancergencyto.2009.08.003.

PMID:
19963129
34.

cDNA microarray expression profile in vestibular schwannoma: correlation with clinical and radiological features.

Lassaletta L, Martínez-Glez V, Torres-Martín M, Rey JA, Gavilán J.

Cancer Genet Cytogenet. 2009 Oct 15;194(2):125-7. doi: 10.1016/j.cancergencyto.2009.06.016. No abstract available.

PMID:
19781445
35.

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.

36.

[Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas].

Franco-Hernández C, Martínez-Glez V, Torres-Martín M, de Campos JM, Isla A, Vaquero J, Casartelli C, Rey JA.

Neurocirugia (Astur). 2009 Apr;20(2):117-23. Spanish.

37.

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.

Placenta. 2009 Jun;30(6):551-4. doi: 10.1016/j.placenta.2009.03.013. Epub 2009 Apr 21.

PMID:
19386358
38.

Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity.

Franco-Hernández C, Martínez-Glez V, de Campos JM, Isla A, Vaquero J, Gutiérrez M, Casartelli C, Rey JA.

Cancer Genet Cytogenet. 2009 Apr 15;190(2):93-6. doi: 10.1016/j.cancergencyto.2008.09.017.

PMID:
19380026
39.

Meningiomas and schwannomas: molecular subgroup classification found by expression arrays.

Martinez-Glez V, Franco-Hernandez C, Alvarez L, De Campos JM, Isla A, Vaquero J, Lassaletta L, Casartelli C, Rey JA.

Int J Oncol. 2009 Feb;34(2):493-504.

PMID:
19148485
40.

Mutational analysis of the CITED4 gene in glioblastomas.

Torres-Martín M, Franco-Hernandez C, Martinez-Glez V, de Campos JM, Isla A, Casartelli C, Rey JA.

Cancer Genet Cytogenet. 2008 Sep;185(2):114-6. doi: 10.1016/j.cancergencyto.2008.05.013. No abstract available.

PMID:
18722883
41.

Microarray gene expression profiling in meningiomas and schwannomas.

Martinez-Glez V, Franco-Hernandez C, Rey JA.

Curr Med Chem. 2008;15(8):826-33. Review.

PMID:
18393851
42.

Detection of gene amplification and copy gains in brain metastases of solid tumors using quantitative real-time polymerase chain reaction.

Franco-Hernández C, Martínez-Glez V, de Campos JM, Isla A, Vaquero J, Rey JA.

Cancer Genet Cytogenet. 2008 Apr 1;182(1):61-2. doi: 10.1016/j.cancergencyto.2007.03.015. No abstract available.

PMID:
18328954
43.

[Biology molecular of glioblastomas].

Franco-Hernández C, Martínez-Glez V, Rey JA.

Neurocirugia (Astur). 2007 Oct;18(5):373-82. Review. Spanish.

44.

RASSF1A methylation and cyclin D1 expression in vestibular schwannomas.

Lassaletta L, Patrón M, González T, Martinez-Glez V, Rey JA, Gavilan J.

Acta Neuropathol. 2007 Oct;114(4):431-3. Epub 2007 Aug 1. No abstract available.

PMID:
17668224
45.

Sotos syndrome is associated with leukemia/lymphoma.

Martínez-Glez V, Lapunzina P.

Am J Med Genet A. 2007 Jun 1;143A(11):1244-5. No abstract available.

PMID:
17480008
46.

Multiplex ligation-dependent probe amplification (MLPA) screening in meningioma.

Martínez-Glez V, Franco-Hernández C, Lomas J, Peña-Granero C, de Campos JM, Isla A, Rey JA.

Cancer Genet Cytogenet. 2007 Mar;173(2):170-2. No abstract available.

PMID:
17321335
47.

DAPK1 promoter hypermethylaiton in brain metastases and peripheral blood.

Martinez-Glez V, Franco-Hernandez C, Gonzalez-Gomez P, Isla A, De Campos JM, Vaquero J, Gutierrez M, Casartelli C, Rey JA.

Neoplasma. 2007;54(2):123-6.

PMID:
17319784
48.

EGFR sequence variations and real-time quantitative polymerase chain reaction analysis of gene dosage in brain metastases of solid tumors.

Franco-Hernandez C, Martinez-Glez V, Arjona D, de Campos JM, Isla A, Gutierrez M, Vaquero J, Rey JA.

Cancer Genet Cytogenet. 2007 Feb;173(1):63-7.

PMID:
17284372
49.

DNA methylation pattern in 16 tumor-related genes in schwannomas.

Bello MJ, Martinez-Glez V, Franco-Hernandez C, Pefla-Granero C, de Campos JM, Isla A, Lassaletta L, Vaquero J, Rey JA.

Cancer Genet Cytogenet. 2007 Jan 1;172(1):84-6. No abstract available.

PMID:
17175387
50.

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C.

Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. Epub 2006 Oct 28.

PMID:
17157569

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