T. Vendrell

发表

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012, Revista espanola de cardiologia.

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012 .

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.

J. González, G. Parra, M. Gut, 2022, The Journal of molecular diagnostics : JMD.

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

E. Ars, J. Ballarín, R. Torra, 2014, Pediatric Nephrology.

Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.

P. Lapunzina, M. Campo, J. Calaf, 2010, The Journal of clinical endocrinology and metabolism.

Contribution of Rare Copy Number Variants to Isolated Human Malformations

B. Rodríguez-Santiago, L. Pérez-Jurado, N. Camats, 2012, PloS one.

Resolution of an autoimmune thrombocytopenic purpura after eradicating treatment of Helicobacter pylori

I. Español, N. Pujol-Moix, T. Vendrell, 1999 .

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome

A. Evangelista, E. Tizzano, M. Codina-Solà, 2021, Journal of Medical Genetics.

Prenatal diagnosis of a rare chromosomal instability syndrome: Variegated aneuploidy related to premature centromere division (PCD)

E. Sarret, C. Mediano, I. Farrán, 2003, American journal of medical genetics. Part A.

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

D. Smeets, A. Plaja, E. Sarret, 2001, American journal of medical genetics.

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

D. Heine-Suñer, L. Kalaydjieva, J. Argente, 2011, European Journal of Human Genetics.

Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

G. Izquierdo, A. Martinez-Mir, A. Gónzalez-Meneses, 2014, PloS one.

Further delineation of the phenotype caused by loss of function mutations in PRMT7.

L. Armengol, B. Rodríguez-Santiago, E. Tizzano, 2019, European journal of medical genetics.

Arthrogryposis as neonatal presentation of Loeys-Dietz syndrome due to a novel TGFBR2 mutation.

E. Tizzano, F. Munell, I. Valenzuela, 2017, European journal of medical genetics.

Intrachromosomal 3p Insertion as a Cause of Reciprocal Pure Interstitial Deletion and Duplication in Two Siblings: Further Delineation of the Emerging Proximal 3p Deletion Syndrome

M. Del Campo, A. Plaja, E. Lloveras, 2015, Cytogenetic and Genome Research.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

A. Hoischen, A. Reymond, W. Reardon, 2013, Clinical genetics.

A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region

A. Carrió, B. Rodríguez-Santiago, E. Tizzano, 2015, Cytogenetic and Genome Research.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi–Hünermann–Happle syndrome: new insights into X‐linked dominant chondrodysplasia punctata with a comprehensive review of the literature

F. Martínez, R. González-Sarmiento, J. Rosell, 2012, The British journal of dermatology.

Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis.

J. Rosell, R. Oliva, A. Soler, 1998, Journal of medical genetics.

Terminal deletion of Xp in a dysmorphic anencephalic fetus

N. Torán, A. Plaja, E. Sarret, 1994, Prenatal diagnosis.

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

Comparative genomic hybridisation shows a partial de novo deletion 16p11.2 in a neonate with multiple congenital malformations

C. Fuster, T. Vendrell, M. M. Pérez, 2002, Journal of medical genetics.

Two cases of tetrasomy 9p syndrome with tissue limited mosaicism

F. Solé, M. Salido, B. Espinet, 2004, American journal of medical genetics. Part A.

Terminal deletion of 6p: report of a new case.

D. Soriano, E. Sarret, C. Mediano, 1994, Annales de genetique.

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

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

[Diaphragmatic defect, congenital heart disease, agonadism: a new case of PAGOD syndrome].

J. Sanchez-de-Toledo, J. Ferreres, J. Balcells, 2014, Anales de pediatria.

Pathological Findings in the Complete Trisomy 9 Syndrome: Three Case Reports and Review of the Literature

S. Y. Cajal, V. Peg, E. Martínez-Sáez, 2008, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).

E. Tizzano, G. Ariceta, E. García-Arumí, 2018, European journal of medical genetics.

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012 .