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Items: 1 to 50 of 281

1.

Wolf-Hirschhorn Syndrome Candidate 1 Is Necessary for Correct Hematopoietic and B Cell Development.

Campos-Sanchez E, Deleyto-Seldas N, Dominguez V, Carrillo-de-Santa-Pau E, Ura K, Rocha PP, Kim J, Aljoufi A, Esteve-Codina A, Dabad M, Gut M, Heyn H, Kaneda Y, Nimura K, Skok JA, Martinez-Frias ML, Cobaleda C.

Cell Rep. 2017 May 23;19(8):1586-1601. doi: 10.1016/j.celrep.2017.04.069.

2.

Delineation of the clinically recognizable 17q22 contiguous gene deletion syndrome in a patient carrying the smallest microdeletion known to date.

Martínez-Fernández ML, Fernández-Toral J, Llano-Rivas I, Bermejo-Sánchez E, MacDonald A, Martínez-Frías ML.

Am J Med Genet A. 2015 Sep;167A(9):2034-41. doi: 10.1002/ajmg.a.37117. Epub 2015 Apr 21.

PMID:
25899082
3.

European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

Taruscio D, Arriola L, Baldi F, Barisic I, Bermejo-Sánchez E, Bianchi F, Calzolari E, Carbone P, Curran R, Garne E, Gatt M, Latos-Bieleńska A, Khoshnood B, Irgens L, Mantovani A, Martínez-Frías ML, Neville A, Rißmann A, Ruggeri S, Wellesley D, Dolk H.

Public Health Genomics. 2014;17(2):115-23. doi: 10.1159/000360602. Epub 2014 Apr 3.

PMID:
24714026
4.

Interstitial deletion 14q22.3-q23.2: genotype-phenotype correlation.

Martínez-Frías ML, Ocejo-Vinyals JG, Arteaga R, Martínez-Fernández ML, Macdonald A, Pérez-Belmonte E, Bermejo-Sánchez E, Martínez S.

Am J Med Genet A. 2014 Mar;164A(3):639-47. doi: 10.1002/ajmg.a.36330. Epub 2013 Dec 19.

PMID:
24357464
5.

Haploinsufficiency of BMP4 gene may be the underlying cause of Frías syndrome.

Martínez-Fernández ML, Bermejo-Sánchez E, Fernández B, MacDonald A, Fernández-Toral J, Martínez-Frías ML.

Am J Med Genet A. 2014 Feb;164A(2):338-45. doi: 10.1002/ajmg.a.36224. Epub 2013 Dec 5. Review.

PMID:
24311462
6.

Patient with disorganization syndrome: surgical procedures, pathology, and potential causes.

Vallejo OG, Benítez Sánchez Mdel C, Cánovas CS, Ontiveros JD, Ruiz Jiménez JI, Bermejo-Sánchez E, Martínez-Frías ML.

Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):781-5. doi: 10.1002/bdra.23203. Epub 2013 Dec 4.

PMID:
24307594
7.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

Carrascosa-Romero MC, Suela J, Pardal-Fernández JM, Bermejo-Sánchez E, Vidal-Company A, MacDonald A, Tébar-Gil R, Martínez-Fernández ML, Martínez-Frías ML.

Am J Med Genet A. 2013 Sep;161A(9):2281-90. doi: 10.1002/ajmg.a.35862. Epub 2013 Jul 25.

PMID:
23894067
8.

A highly specific coding system for structural chromosomal alterations.

Martínez-Frías ML, Martínez-Fernández ML.

Am J Med Genet A. 2013 Apr;161A(4):732-6. doi: 10.1002/ajmg.a.35787. Epub 2013 Mar 12.

PMID:
23495121
9.

Assessing pre-implantation embryo development in mice provides a rationale for understanding potential adverse effects of ART and PGD procedures.

Martínez-Frías ML.

Am J Med Genet A. 2012 Oct;158A(10):2526-33. doi: 10.1002/ajmg.a.35573. Epub 2012 Aug 17. Review.

PMID:
22903927
10.

[The thalidomide experience: review of its effects 50 years later].

Martínez-Frías ML.

Med Clin (Barc). 2012 Jun 2;139(1):25-32. doi: 10.1016/j.medcli.2011.10.011. Epub 2011 Dec 15. Review. Spanish.

PMID:
22177324
11.

Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):288-304. doi: 10.1002/ajmg.c.30319. Epub 2011 Oct 14. Review.

12.

Acardia: epidemiologic findings and literature review from the International Clearinghouse for Birth Defects Surveillance and Research.

Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HE, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías ML, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):262-73. doi: 10.1002/ajmg.c.30318. Epub 2011 Oct 14. Review.

PMID:
22002952
13.

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Botto LD, Clementi M, Correa A, Csaky-Szunyogh M, Leoncini E, Li Z, López-Camelo JS, Lowry RB, Marengo L, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Castilla EE.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):358-73. doi: 10.1002/ajmg.c.30324. Epub 2011 Oct 14. Review.

14.

Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research.

Mutchinick OM, Luna-Muñoz L, Amar E, Bakker MK, Clementi M, Cocchi G, da Graça Dutra M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry B, Marengo LK, Martínez-Frías ML, Mastroiacovo P, Métneki J, Morgan M, Pierini A, Rissman A, Ritvanen A, Scarano G, Siffel C, Szabova E, Arteaga-Vázquez J.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):274-87. doi: 10.1002/ajmg.c.30321. Epub 2011 Oct 14. Review.

15.

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías ML.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):305-20. doi: 10.1002/ajmg.c.30320. Epub 2011 Oct 14. Review.

16.

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.

17.

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

Bonaglia MC, Giorda R, Beri S, De Agostini C, Novara F, Fichera M, Grillo L, Galesi O, Vetro A, Ciccone R, Bonati MT, Giglio S, Guerrini R, Osimani S, Marelli S, Zucca C, Grasso R, Borgatti R, Mani E, Motta C, Molteni M, Romano C, Greco D, Reitano S, Baroncini A, Lapi E, Cecconi A, Arrigo G, Patricelli MG, Pantaleoni C, D'Arrigo S, Riva D, Sciacca F, Dalla Bernardina B, Zoccante L, Darra F, Termine C, Maserati E, Bigoni S, Priolo E, Bottani A, Gimelli S, Bena F, Brusco A, di Gregorio E, Bagnasco I, Giussani U, Nitsch L, Politi P, Martinez-Frias ML, Martínez-Fernández ML, Martínez Guardia N, Bremer A, Anderlid BM, Zuffardi O.

PLoS Genet. 2011 Jul;7(7):e1002173. doi: 10.1371/journal.pgen.1002173. Epub 2011 Jul 14.

18.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Garrido-Allepuz C, Haro E, González-Lamuño D, Martínez-Frías ML, Bertocchini F, Ros MA.

Dis Model Mech. 2011 May;4(3):289-99. doi: 10.1242/dmm.007732. Epub 2011 Apr 18. Review.

19.

Paper 6: EUROCAT member registries: organization and activities.

Greenlees R, Neville A, Addor MC, Amar E, Arriola L, Bakker M, Barisic I, Boyd PA, Calzolari E, Doray B, Draper E, Vollset SE, Garne E, Gatt M, Haeusler M, Kallen K, Khoshnood B, Latos-Bielenska A, Martinez-Frias ML, Materna-Kiryluk A, Dias CM, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo-Ranjatoélina H, Rankin J, Rissmann A, Ritvanen A, Salvador J, Sipek A, Tucker D, Verellen-Dumoulin C, Wellesley D, Wertelecki W.

Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S51-S100. doi: 10.1002/bdra.20775. Epub 2011 Mar 4. Review.

PMID:
21381185
20.

Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.

Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S.

Am J Med Genet A. 2011 Jan;155A(1):197-202. doi: 10.1002/ajmg.a.33765.

PMID:
21204232
21.

Prevention, diagnosis and services.

Bermejo E, Martínez-Frías ML.

Adv Exp Med Biol. 2010;686:55-75. doi: 10.1007/978-90-481-9485-8_4. Review.

PMID:
20824439
22.

Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report.

Fernández-Toral J, Rodríguez L, Plasencia A, Martínez-Frías ML, Ewers E, Hamid AB, Ziegler M, Liehr T.

J Med Case Rep. 2010 Aug 3;4:239. doi: 10.1186/1752-1947-4-239.

23.

Subtelomeric deletion of 12p: Description of a third case and review.

Macdonald AH, Rodríguez L, Aceña I, Martínez-Fernández ML, Sánchez-Izquierdo D, Zuazo E, Martínez-Frías ML.

Am J Med Genet A. 2010 Jun;152A(6):1561-6. doi: 10.1002/ajmg.a.33401. Review.

PMID:
20503336
24.

[Chromosome 9P deletion: Gonadal dysgenesis associated with mental retardation and hypoplasia of the corpus callosum: A contiguous gene syndrome?].

Climent Alcalá FJ, Molina Rodríguez MA, González Casado I, Osona Bris L, Salamanca Fresno L, Guerrero-Fernández J, Martínez-Frías ML, Gracia Bouthelier R.

An Pediatr (Barc). 2010 Mar;72(3):210-4. doi: 10.1016/j.anpedi.2009.10.018. Epub 2010 Feb 6. Spanish.

25.

Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia.

Martínez-Frías ML, de Frutos CA, Bermejo E, Nieto MA; ECEMC Working Group.

Am J Med Genet A. 2010 Jan;152A(1):245-55. doi: 10.1002/ajmg.a.33188. Review.

PMID:
20034074
26.

Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

Valencia M, Lapunzina P, Lim D, Zannolli R, Bartholdi D, Wollnik B, Al-Ajlouni O, Eid SS, Cox H, Buoni S, Hayek J, Martinez-Frias ML, Antonio PA, Temtamy S, Aglan M, Goodship JA, Ruiz-Perez VL.

Hum Mutat. 2009 Dec;30(12):1667-75. doi: 10.1002/humu.21117.

PMID:
19810119
27.

Can our understanding of epigenetics assist with primary prevention of congenital defects?

Martínez-Frías ML.

J Med Genet. 2010 Feb;47(2):73-80. doi: 10.1136/jmg.2009.070466. Epub 2009 Sep 15. Review.

PMID:
19755430
28.

Conjoined twins presenting with different sex: description of a second case that truly represents the earliest historical evidence in humans.

Martínez-Frías ML.

Am J Med Genet A. 2009 Jul;149A(7):1595-6. doi: 10.1002/ajmg.a.32951. No abstract available.

PMID:
19533798
29.

Topiramate in pregnancy: preliminary experience from the UK Epilepsy and Pregnancy Register.

Martínez-Frías ML.

Neurology. 2009 Jun 9;72(23):2054-5; author reply 2055. doi: 10.1212/01.wnl.0000349659.03687.a7. No abstract available.

PMID:
19506234
30.

Epidemiological and clinical analysis of a consecutive series of conjoined twins in Spain.

Martínez-Frías ML, Bermejo E, Mendioroz J, Rodríguez-Pinilla E, Blanco M, Egüés J, Félix V, García A, Huertas H, Nieto C, López JA, López S, Paisán L, Rosa A, Vázquez MS.

J Pediatr Surg. 2009 Apr;44(4):811-20. doi: 10.1016/j.jpedsurg.2008.07.002. Review.

PMID:
19361646
31.

Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: description of the first patient.

Rodríguez L, Martínez-Fernández ML, Aceña MI, López Mendoza S, Martín Fumero L, Rodríguez de Alba M, Gallego-Merlo J, Martínez-Frías ML.

Am J Med Genet A. 2009 May;149A(5):1058-61. doi: 10.1002/ajmg.a.32759. No abstract available.

PMID:
19353587
32.

Epidemiology of acephalus/acardius monozygotic twins: new insights into an epigenetic causal hypothesis.

Martínez-Frías ML; ECEMC Working Group.

Am J Med Genet A. 2009 Feb 15;149A(4):640-9. doi: 10.1002/ajmg.a.32741.

PMID:
19291778
33.

[Aicardi-Goutières syndrome. Review of the genetic bases and their mechanisms].

Sanchis Calvo A, Cerveró Martí L, Martínez Frías ML.

An Pediatr (Barc). 2008 Nov;69(5):496-7. Spanish. No abstract available.

34.

[Alström syndrome: clinical and genetic features, and a diagnostic guide to foresee complications].

Mendioroz J, Bermejo E, Marshall JD, Naggert JK, Collin GB, Martínez-Frías ML.

Med Clin (Barc). 2008 Nov 29;131(19):741-6. Spanish.

PMID:
19091203
35.

A small and active ring X chromosome in a female with features of Kabuki syndrome.

Rodríguez L, Diego-Alvarez D, Lorda-Sanchez I, Gallardo FL, Martínez-Fernández ML, Arroyo-Muñoz ME, Martínez-Frías ML.

Am J Med Genet A. 2008 Nov 1;146A(21):2816-21. doi: 10.1002/ajmg.a.32521.

PMID:
18925662
36.

Preferential associations between oral clefts and other major congenital anomalies.

Rittler M, López-Camelo JS, Castilla EE, Bermejo E, Cocchi G, Correa A, Csaky-Szunyogh M, Danderfer R, De Vigan C, De Walle H, da Graça Dutra M, Hirahara F, Martínez-Frías ML, Merlob P, Mutchinick O, Ritvanen A, Robert-Gnansia E, Scarano G, Siffel C, Stoll C, Mastroiacovo P.

Cleft Palate Craniofac J. 2008 Sep;45(5):525-32. doi: 10.1597/06-250.1.

PMID:
18788868
37.

Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.

Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.

Eur J Hum Genet. 2008 Dec;16(12):1443-9. doi: 10.1038/ejhg.2008.119. Epub 2008 Jul 23.

38.

[Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population].

Martínez-Frías ML, Bermejo E, Pérez B, Desviat LR, Castro M, Leal F, Mansilla E, Martínez-Fernández ML, Rodríguez-Pinilla E, Rodríguez L, Ugarte M; Grupo de Trabajo del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC).

Med Clin (Barc). 2008 Jun 21;131(3):81-8. Spanish.

PMID:
18590621
39.

Genetic drift. The balance of nature: reflections on the physics and mathematics structure of the living world and the human genome.

Martínez-Frías ML.

Am J Med Genet A. 2008 Jul 15;146A(14):1781-7. doi: 10.1002/ajmg.a.32337. No abstract available.

PMID:
18553565
40.

Risk of hypospadias in newborn infants exposed to valproic acid during the first trimester of pregnancy: a case-control study in Spain.

Rodríguez-Pinilla E, Mejías C, Prieto-Merino D, Fernández P, Martínez-Frías ML; ECEMC Working Group.

Drug Saf. 2008;31(6):537-43.

PMID:
18484787
41.

A new small supernumerary marker chromosome, generating mosaic pure trisomy 16q11.1-q12.1 in a healthy man.

Rodríguez L, Liehr T, Martínez-Fernández ML, Lara A, Torres A, Martínez-Frías ML.

Mol Cytogenet. 2008 Apr 2;1:4. doi: 10.1186/1755-8166-1-4.

42.
43.

Problem of using cases with genetic anomalies as a reference group in case-control studies on drug use and birth defects.

Martínez-Frías ML, Rodríguez-Pinilla E.

Birth Defects Res A Clin Mol Teratol. 2008 Mar;82(3):173-4; author reply 175. doi: 10.1002/bdra.20424. No abstract available.

PMID:
18186122
44.

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J.

Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19.

PMID:
18177472
45.

Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias.

de Frutos CA, Vega S, Manzanares M, Flores JM, Huertas H, Martínez-Frías ML, Nieto MA.

Dev Cell. 2007 Dec;13(6):872-83.

46.

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.

Rodríguez L, Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML.

Clin Dysmorphol. 2008 Jan;17(1):5-12.

PMID:
18049073
47.

Infrequently studied congenital anomalies as clues to the diagnosis of maternal diabetes mellitus.

Frías JL, Frías JP, Frías PA, Martínez-Frías ML.

Am J Med Genet A. 2007 Dec 15;143A(24):2904-9.

PMID:
18000913
48.

Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants.

Martínez-Frías ML, Bermejo E, Rodríguez-Pinilla E, Prieto D; ECEMC Working Group.

Am J Med Genet A. 2008 Jan 1;146A(1):15-25.

PMID:
17999408
49.
50.

Small supernumerary chromosome marker generating complete and pure trisomy 18p, characterized by molecular cytogenetic techniques and review.

Rodríguez L, Liehr T, Mrasek K, Mansilla E, Martínez-Fernández ML, Garcia A, Martínez-Frías ML.

Am J Med Genet A. 2007 Nov 15;143A(22):2727-32. Review.

PMID:
17937429

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