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Javier Sánchez

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male
2010 · Juan I Pieras, Beatriz Muñoz-cabello, et al. · Brain and Development · 26
Interstitial 10p deletion derived from a maternal ins(16;10)(q22;p13p15.2): Report of the first familial case of 10p monosomy affecting to two familial members of different generations
2016 · Raquel M. Fernández, Javier Sánchez, et al. · American Journal of Medical Genetics Part A · 13
Reverse mutation in fragile X syndrome.
1996 · G Antiñolo, S Borrego, et al. · PubMed Central · 12
Somatic and germ‐line mosaicism of deletion 15q11.2–q13 in a mother of dyzigotic twins with Angelman syndrome
2013 · Javier Sánchez, Raquel Fernández, et al. · American Journal of Medical Genetics Part A · 11
RUNX1 amplification in AML with myelodysplasia‐related changes and ring 21 chromosomes
2016 · S Burillo‐Sanz, MT Vargas, et al. · Hematological Oncology · 10
Molecular and clinical analyses of cystic fibrosis in the South of Spain
1994 · Salud Borrego, Teresa Casals, et al. · Clinical Genetics · 5
MLL ‐rearranged acute myeloid leukemia: Influence of the genetic partner in allo‐ HSCT response and prognostic factor of MLL 3′ region mRNA expression
2018 · Sergio Burillo‐Sanz, Rosario M. Morales‐Camacho, et al. · European Journal Of Haematology · 4
Ultrasound, Echocardiography, MRI, and Genetic Analysis of a Fetus with Congenital Diaphragmatic Hernia and Partial 11q Trisomy
2017 · Yolanda Fernández-Perea, Lutgardo García-Díaz, et al. · Case Reports in Obstetrics and Gynecology · 4
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Differential cytogenetic profile in advanced chronic myeloid leukemia with sequential lymphoblastic and myeloblastic blast crisis
2013 · C. Calderón-Cabrera, I. Montero, et al. · Leukemia Research Reports · 4
PCR Mutagenesis-Based Method for Generation of Positive Controls for SSCP Analysis
1997 · A. Ruiz, G. Antiñolo, et al. · BioTechniques · 4
An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis
2014 · Rosario M. Morales Camacho, Javier Sanchez, et al. · Case Reports in Genetics · 3
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Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13
2014 · Javier Sánchez, Ana Peciña, et al. · Case Reports in Genetics · 2
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Derivation of HVR1, HVR2 and HVR3 human embryonic stem cell lines from IVF embryos after preimplantation genetic diagnosis (PGD) for monogenic disorder
2016 · Abdelkrim Hmadcha, Yolanda Aguilera, et al. · Stem Cell Research · 1
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Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
2012 · Javier Sánchez, Lutgardo García-Díaz, et al. · Case Reports in Genetics · 1
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Maternal-Fetal immune networks and viral signatures in the healthy amniotic cavity
2026 · M González-Rovira, L García-Díaz, et al. · medRxiv
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Additional file 1 of Unveiling balanced prenatal microbial colonization in amniotic fluid through an integrated culture and sequencing approach
2026 · González-Rovira, M., Sainz-Bueno, J. A., et al. · Figshare
Clinical Outcome, Molecular and Gene Expression Analysis of 20 MLL-Rearranged AML from a Single Institution
2015 · Sergio Burillo-Sanz, Rosario Morales-Camacho, et al. · Blood
P-109 Evaluation of serum circulating tumor DNA in advanced non small cell lung cancer (NSCLC) and relationship with clinical and biological tumoral characteristics
2003 · Carlos Camps, Ana Blasco, et al. · Lung Cancer
Análisis de los tratamientos de alta en base a la evidencia, de pacientes con síndrome coronario agudo en una unidad de Cuidados Intermedios
2002 · F. J. Cobos García, Antonio Puppo Moreno, et al. · Farmacia Hospitalaria
Roberts syndrome S.C.-Focomelia: Cytogenetic findings om three sibs
1988 · Guillermo Antiñolo, Salud Borrego, et al. · Anales de Pediatría
Works count: 20
Citation count: 100
H-index: 5
I10-index: 5
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