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Items: 1 to 50 of 130

1.

Association between anti-thyroid antibodies and negative symptoms in early psychosis.

Barbero JD, Palacín A, Serra P, Solé M, Ortega L, Cabezas Á, Montalvo I, Algora MJ, Martorell L, Vilella E, Sánchez-Gistau V, Labad J.

Early Interv Psychiatry. 2019 Sep 16. doi: 10.1111/eip.12873. [Epub ahead of print]

PMID:
31529601
2.

Interaction between the functional SNP rs2070951 in NR3C2 gene and high levels of plasma corticotropin-releasing hormone associates to postpartum depression.

Gutiérrez-Zotes A, Díaz-Peña R, Costas J, Martorell L, Gelabert E, Sans T, Navinés R, Albacar G, Ímaz ML, García-Esteve L, Sanjuan J, Martín-Santos R, Carracedo A, Vilella E.

Arch Womens Ment Health. 2019 Aug 6. doi: 10.1007/s00737-019-00989-x. [Epub ahead of print]

PMID:
31388769
3.

HLA-A, -B, -C, -DRB1, and -DQB1 allele and haplotype frequencies: An analysis of umbilical cord blood units at the Barcelona Cord Blood Bank.

Enrich E, Campos E, Martorell L, Herrero MJ, Vidal F, Querol S, Rudilla F.

HLA. 2019 Oct;94(4):347-359. doi: 10.1111/tan.13644. Epub 2019 Aug 6.

PMID:
31353832
4.

Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users.

Martorell L, Sanfeliu A, Blázquez A, Lojo E, Cortés MJ, de Pablo J, Vilella E.

Mol Genet Genomic Med. 2019 Aug;7(8):e830. doi: 10.1002/mgg3.830. Epub 2019 Jun 29.

5.

Hypothalamic-pituitary-adrenal axis function and exposure to stress factors and cannabis use in recent-onset psychosis.

Labad J, Ortega L, Cabezas Á, Montalvo I, Arranz S, Algora MJ, Solé M, Martorell L, Vilella E, Sánchez-Gistau V.

World J Biol Psychiatry. 2019 Jun 27:1-8. doi: 10.1080/15622975.2019.1628301. [Epub ahead of print]

PMID:
31244371
6.

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

Frongia AL, Natera-de Benito D, Ortez C, Alarcón M, Borrás A, Medina J, Vigo M, Padrós N, Moya O, Armas J, Carrera-García L, Expósito-Escudero J, Cuadras D, Bernal S, Martorell L, Colomer J, Nascimento A.

Neuromuscul Disord. 2019 Jul;29(7):517-524. doi: 10.1016/j.nmd.2019.04.003. Epub 2019 Apr 18.

PMID:
31201046
7.

Variable readthrough responsiveness of nonsense mutations in hemophilia A.

Martorell L, Cortina V, Parra R, Barquinero J, Vidal F.

Haematologica. 2019 Jun 13. pii: haematol.2018.212118. doi: 10.3324/haematol.2018.212118. [Epub ahead of print]

8.

Relationship between ANKK1 rs1800497 polymorphism, overweight and executive dysfunction in early psychosis.

Sanchez-Gistau V, Mariné R, Martorell L, Cabezas A, Algora MJ, Sole M, Labad J, Vilella E.

Schizophr Res. 2019 Jul;209:278-280. doi: 10.1016/j.schres.2019.05.022. Epub 2019 May 15. No abstract available.

PMID:
31103213
9.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Neurologia. 2019 Apr 16. pii: S0213-4853(19)30019-2. doi: 10.1016/j.nrl.2019.01.001. [Epub ahead of print] English, Spanish.

10.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Gutiérrez Gutiérrez G, Díaz-Manera J, Almendrote M, Azriel S, Eulalio Bárcena J, Cabezudo García P, Camacho Salas A, Casanova Rodríguez C, Cobo AM, Díaz Guardiola P, Fernández-Torrón R, Gallano Petit MP, García Pavía P, Gómez Gallego M, Gutiérrez Martínez AJ, Jericó I, Kapetanovic García S, López de Munaín Arregui A, Martorell L, Morís de la Tassa G, Moreno Zabaleta R, Muñoz-Blanco JL, Olivar Roldán J, Pascual Pascual SI, Peinado Peinado R, Pérez H, Poza Aldea JJ, Rabasa M, Ramos A, Rosado Bartolomé A, Rubio Pérez MÁ, Urtizberea JA, Zapata-Wainberg G, Gutiérrez-Rivas E.

Med Clin (Barc). 2019 Jul 19;153(2):82.e1-82.e17. doi: 10.1016/j.medcli.2018.10.028. Epub 2019 Jan 24. English, Spanish.

PMID:
30685181
11.

Increased levels of serum leptin in the early stages of psychosis.

Martorell L, Muntané G, Porta-López S, Moreno I, Ortega L, Montalvo I, Sanchez-Gistau V, Monseny R, Labad J, Vilella E.

J Psychiatr Res. 2019 Apr;111:24-29. doi: 10.1016/j.jpsychires.2019.01.006. Epub 2019 Jan 11.

PMID:
30660810
12.

A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.

Prior C, Muñoz-Calero M, Gómez-Gonzalez C, Martinez-Montero P, Barrio L, Poo P, Martorell L, Molano J.

J Neurol Sci. 2019 Feb 15;397:135-137. doi: 10.1016/j.jns.2018.12.031. Epub 2018 Dec 23. No abstract available.

PMID:
30616056
13.

Discoidin domain receptor 1 gene variants are associated with decreased white matter fractional anisotropy and decreased processing speed in schizophrenia.

Gas C, Canales-Rodríguez EJ, Radua J, Abasolo N, Cortés MJ, Salvadó E, Muntané G, Alemán-Gómez Y, Julià T, Marsal S, Sanjuan J, Guitart M, Costas J, Martorell L, Pomarol-Clotet E, Vilella E.

J Psychiatr Res. 2019 Mar;110:74-82. doi: 10.1016/j.jpsychires.2018.12.021. Epub 2018 Dec 24.

PMID:
30597424
14.

Mutation of PACS1: the milder end of the spectrum.

Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Arsmtrong J, Maynou J, Fernandez G, Del Carmen Salgado M, Palau F, Serrano M.

Clin Dysmorphol. 2018 Oct;27(4):148-150. doi: 10.1097/MCD.0000000000000237. No abstract available.

PMID:
30113927
15.

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

Viñas-Jornet M, Esteba-Castillo S, Baena N, Ribas-Vidal N, Ruiz A, Torrents-Rodas D, Gabau E, Vilella E, Martorell L, Armengol L, Novell R, Guitart M.

Behav Genet. 2018 Jul;48(4):323-336. doi: 10.1007/s10519-018-9902-6. Epub 2018 Jun 7.

16.

Clinical correlates of hypothalamic-pituitary-adrenal axis measures in individuals at risk for psychosis and with first-episode psychosis.

Labad J, Armario A, Nadal R, Solé M, Gutiérrez-Zotes A, Montalvo I, Moreno-Samaniego L, Martorell L, Sánchez-Gistau V, Vilella E.

Psychiatry Res. 2018 Jul;265:284-291. doi: 10.1016/j.psychres.2018.05.018. Epub 2018 May 7.

PMID:
29775885
17.

Germline promoter hypermethylation in BRCA1 and BRCA2 genes is not present in hereditary breast cancer patients.

Rodríguez-Balada M, Roig B, Melé M, Salvat M, Martorell L, Borràs J, Gumà J.

Clin Transl Oncol. 2018 Sep;20(9):1226-1231. doi: 10.1007/s12094-018-1837-0. Epub 2018 Feb 5.

PMID:
29404838
18.

Genetic and clinical evidence of mitochondrial dysfunction in autism spectrum disorder and intellectual disability.

Valiente-Pallejà A, Torrell H, Muntané G, Cortés MJ, Martínez-Leal R, Abasolo N, Alonso Y, Vilella E, Martorell L.

Hum Mol Genet. 2018 Mar 1;27(5):891-900. doi: 10.1093/hmg/ddy009.

PMID:
29340697
19.

Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza Escobar JD, Martí Sánchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras Pallejà D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T, Pérez Dueñas B.

Mov Disord. 2017 Nov;32(11):1620-1630. doi: 10.1002/mds.27129. Epub 2017 Aug 28.

PMID:
28845923
20.

Advanced cell-based modeling of the royal disease: characterization of the mutated F9 mRNA.

Martorell L, Luce E, Vazquez JL, Richaud-Patin Y, Jimenez-Delgado S, Corrales I, Borras N, Casacuberta-Serra S, Weber A, Parra R, Altisent C, Follenzi A, Dubart-Kupperschmitt A, Raya A, Vidal F, Barquinero J.

J Thromb Haemost. 2017 Nov;15(11):2188-2197. doi: 10.1111/jth.13808. Epub 2017 Sep 25.

PMID:
28834196
21.

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M, Revencu N, Helaers R, Pairet E, Baselga E, Cordisco M, Chung W, Dubois J, Lacour JP, Martorell L, Mazereeuw-Hautier J, Pyeritz RE, Amor DJ, Bisdorff A, Blei F, Bombei H, Dompmartin A, Brooks D, Dupont J, González-Enseñat MA, Frieden I, Gérard M, Kvarnung M, Hanson-Kahn AK, Hudgins L, Léauté-Labrèze C, McCuaig C, Metry D, Parent P, Paul C, Petit F, Phan A, Quere I, Salhi A, Turner A, Vabres P, Vicente A, Wargon O, Watanabe S, Weibel L, Wilson A, Willing M, Mulliken JB, Boon LM, Vikkula M.

Circulation. 2017 Sep 12;136(11):1037-1048. doi: 10.1161/CIRCULATIONAHA.116.026886. Epub 2017 Jul 7.

PMID:
28687708
22.

Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.

Alsina Casanova M, Monteagudo-Sánchez A, Rodiguez Guerineau L, Court F, Gazquez Serrano I, Martorell L, Rovira Zurriaga C, Moore GE, Ishida M, Castañon M, Moliner Calderon E, Monk D, Moreno Hernando J.

Hum Mutat. 2017 Jun;38(6):615-620. doi: 10.1002/humu.23213. Epub 2017 Mar 24.

PMID:
28256047
23.

Mitochondrial dysfunction in a family with psychosis and chronic fatigue syndrome.

Torrell H, Alonso Y, Garrabou G, Mulet D, Catalán M, Valiente-Pallejà A, Carreño-Gago L, García-Arumí E, Montaña E, Vilella E, Martorell L.

Mitochondrion. 2017 May;34:1-8. doi: 10.1016/j.mito.2016.10.007. Epub 2016 Oct 28.

PMID:
27989882
24.

In silico, in vitro and case-control analyses as an effective combination for analyzing BRCA1 and BRCA2 unclassified variants in a population-based sample.

Rodríguez-Balada M, Roig B, Martorell L, Melé M, Salvat M, Vilella E, Borràs J, Gumà J.

Cancer Genet. 2016 Nov;209(11):487-492. doi: 10.1016/j.cancergen.2016.09.003. Epub 2016 Sep 20.

PMID:
27886673
25.

Parental Antecedents of Psychosis Are Associated With Severity of Positive and Negative Symptoms in Schizophrenia Patients.

Canga E, Puerto M, Ortega L, Solé M, Vilella E, Labad J, Martorell L.

J Clin Psychiatry. 2016 Sep;77(9):1201-1202. doi: 10.4088/JCP.15l10241. No abstract available.

26.

Myeloid-derived suppressor cells expressing a self-antigen ameliorate experimental autoimmune encephalomyelitis.

Casacuberta-Serra S, Costa C, Eixarch H, Mansilla MJ, López-Estévez S, Martorell L, Parés M, Montalban X, Espejo C, Barquinero J.

Exp Neurol. 2016 Dec;286:50-60. doi: 10.1016/j.expneurol.2016.09.012. Epub 2016 Sep 28.

PMID:
27693617
27.

Gene-environment interaction between the brain-derived neurotrophic factor Val66Met polymorphism, psychosocial stress and dietary intake in early psychosis.

Gattere G, Stojanovic-Pérez A, Monseny R, Martorell L, Ortega L, Montalvo I, Solé M, Algora MJ, Cabezas Á, Reynolds RM, Vilella E, Labad J.

Early Interv Psychiatry. 2018 Oct;12(5):811-820. doi: 10.1111/eip.12371. Epub 2016 Sep 15.

PMID:
27629407
28.

The relationship between antidepressant treatment and inflammatory markers in early psychosis: preliminary results.

Stojanovic-Pérez A, Martorell L, Montalvo I, Ortega L, Solé M, Moreno I, Vilella E, Labad J.

Psychopharmacology (Berl). 2016 Oct;233(19-20):3659-61. doi: 10.1007/s00213-016-4413-8. Epub 2016 Aug 29. No abstract available.

PMID:
27572626
29.

Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation.

Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell L, Otaegui D, Matheu A, López de Munain A.

Neurology. 2016 Sep 20;87(12):1250-7. doi: 10.1212/WNL.0000000000003124. Epub 2016 Aug 24.

PMID:
27558368
30.

Pharmacogenetic study of the effects of raloxifene on negative symptoms of postmenopausal women with schizophrenia: A double-blind, randomized, placebo-controlled trial.

Labad J, Martorell L, Huerta-Ramos E, Cobo J, Vilella E, Rubio-Abadal E, Garcia-Pares G, Creus M, Núñez C, Ortega L, Miquel E; RALOPSYCAT Group, Usall J.

Eur Neuropsychopharmacol. 2016 Oct;26(10):1683-9. doi: 10.1016/j.euroneuro.2016.08.006. Epub 2016 Aug 18.

PMID:
27546373
31.

The revised Temperament and Character Inventory: normative data by sex and age from a Spanish normal randomized sample.

Gutierrez-Zotes A, Labad J, Martorell L, Gaviria A, Bayón C, Vilella E, Cloninger CR.

PeerJ. 2015 Dec 22;3:e1481. doi: 10.7717/peerj.1481. eCollection 2015.

32.

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

33.

Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracy.

Martorell L, Corrales I, Ramirez L, Parra R, Raya A, Barquinero J, Vidal F.

Haemophilia. 2015 Mar;21(2):249-57. doi: 10.1111/hae.12562. Epub 2015 Feb 5.

PMID:
25652415
34.

Stress biomarkers as predictors of transition to psychosis in at-risk mental states: roles for cortisol, prolactin and albumin.

Labad J, Stojanovic-Pérez A, Montalvo I, Solé M, Cabezas Á, Ortega L, Moreno I, Vilella E, Martorell L, Reynolds RM, Gutiérrez-Zotes A.

J Psychiatr Res. 2015 Jan;60:163-9. doi: 10.1016/j.jpsychires.2014.10.011. Epub 2014 Nov 11. Erratum in: J Psychiatr Res. 2015 Mar;62:138.

PMID:
25466832
35.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani M, Mancini F, Micalizzi A, Poretti A, Miccinilli E, Accorsi P, Avola E, Bertini E, Borgatti R, Romaniello R, Ceylaner S, Coppola G, D'Arrigo S, Giordano L, Janecke AR, Lituania M, Ludwig K, Martorell L, Mazza T, Odent S, Pinelli L, Poo P, Santucci M, Signorini S, Simonati A, Spiegel R, Stanzial F, Steinlin M, Tabarki B, Wolf NI, Zibordi F, Boltshauser E, Valente EM.

Hum Genet. 2015 Jan;134(1):123-6. doi: 10.1007/s00439-014-1508-3. Epub 2014 Nov 19.

36.

Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature.

Natera-de Benito D, Fons C, Ulate-Campos A, Martorell L, Póo P.

Clin Dysmorphol. 2015 Jan;24(1):38-43. doi: 10.1097/MCD.0000000000000064. Review. No abstract available.

PMID:
25380321
37.

Genetic study of NRXN1β variants in Spanish patients with schizophrenia.

Abasolo N, Roig B, Martorell L, Martínez-Leal R, Aguilera F, Camacho-García RJ, Orejuela C, Scholl FG, Martinez-Mir A, Vilella E.

Schizophr Res. 2014 Nov;159(2-3):554-5. doi: 10.1016/j.schres.2014.09.002. Epub 2014 Sep 18. No abstract available.

PMID:
25242362
38.

Mitochondrial DNA (mtDNA) variants in the European haplogroups HV, JT, and U do not have a major role in schizophrenia.

Torrell H, Salas A, Abasolo N, Morén C, Garrabou G, Valero J, Alonso Y, Vilella E, Costas J, Martorell L.

Am J Med Genet B Neuropsychiatr Genet. 2014 Oct;165B(7):607-17. doi: 10.1002/ajmg.b.32264. Epub 2014 Aug 17.

PMID:
25132006
39.

AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.

Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F.

J Neurodev Disord. 2014;6(1):24. doi: 10.1186/1866-1955-6-24. Epub 2014 Jul 30.

40.

Personality dimensions of schizophrenia patients compared to control subjects by gender and the relationship with illness severity.

Miralles C, Alonso Y, Verge B, Setó S, Gaviria AM, Moreno L, Cortés MJ, Gutiérrez-Zotes A, Vilella E, Martorell L.

BMC Psychiatry. 2014 May 24;14:151. doi: 10.1186/1471-244X-14-151.

41.

Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy.

López-Estévez S, Ferrer G, Torres-Torronteras J, Mansilla MJ, Casacuberta-Serra S, Martorell L, Hirano M, Martí R, Barquinero J.

Gene Ther. 2014 Jul;21(7):673-81. doi: 10.1038/gt.2014.41. Epub 2014 May 8.

PMID:
24807807
42.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

Ulate-Campos A, Fons C, Campistol J, Martorell L, Cancho-Candela R, Eiris J, López-Laso E, Pineda M, Sans A, Velázquez R.

Med Clin (Barc). 2014 Jul 7;143(1):25-8. doi: 10.1016/j.medcli.2014.01.036. Epub 2014 Apr 24. Spanish.

PMID:
24768197
43.

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady AF, Boralevi F, González-Enseñat MA, Rio M, Bodemer C, Philip N, Cordier MP, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa AB, Franques J, Toutain A, Tajir M, Elalaoui SC, Geneviève D, Thevenon J, Courcet JB, Rivière JB, Collet C, Gigot N, Faivre L, Thauvin-Robinet C.

Clin Genet. 2015 Mar;87(3):244-51. doi: 10.1111/cge.12361. Epub 2014 Mar 26.

PMID:
24635570
44.

Correcting loss of a papilla following orthodontic space opening (Atherton´s patch) through implant supported rehabilitation. A case report.

Viña J, Balaguer J, Martorell L, Peñarrocha M.

J Clin Exp Dent. 2014 Feb 1;6(1):e100-3. doi: 10.4317/jced.51281. eCollection 2014 Feb.

45.

Increased serum interleukin-6 levels in early stages of psychosis: associations with at-risk mental states and the severity of psychotic symptoms.

Stojanovic A, Martorell L, Montalvo I, Ortega L, Monseny R, Vilella E, Labad J.

Psychoneuroendocrinology. 2014 Mar;41:23-32. doi: 10.1016/j.psyneuen.2013.12.005. Epub 2013 Dec 14.

PMID:
24495605
46.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J.

Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4.

47.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.

Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M.

Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10.

PMID:
24038909
48.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Tondo M, Calpena E, Arriola G, Sanz P, Martorell L, Ormazabal A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Perez-Dueñas B, Pérez-Cerda C, Artuch R.

Mol Genet Metab. 2013 Nov;110(3):231-6. doi: 10.1016/j.ymgme.2013.06.021. Epub 2013 Jul 6.

PMID:
23890588
49.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.

Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch R, Martorell L, Armstrong J, Anton J, Torner F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S, Grinberg D.

Sci Rep. 2013;3:1346. doi: 10.1038/srep01346.

50.

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA.

Hum Mutat. 2013 May;34(5):686-96. doi: 10.1002/humu.22296.

PMID:
23420520

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