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- 4.4 Anomalías cromosómicas.
- A Diagnostic Conundrum: Two Siblings with Features Overlapping the Kabuki and Malpuech Syndromes. A New MCA Syndrome?
- A scoring system to predict the severity of hirschsprung disease at diagnosis and its correlation with molecular genetics
- Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person
- Advances in genetics and their application in surgical pathology in children
- Agenesia de pene y síndrome polimalformativo asociado con ingestión materna de etretinato
- Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene
- Analysis of the frequencies of genotype combinations of 4 polymorphisms of genes acting on the folate cycle in the Spanish population
- Anomalías cromosómicas
- Antenatal exposure to corticosteroids for fetal lung maturation and its repercussion on weight, length and head circumference in the newborn infant
- Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration
- Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
- Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)
- Beckwith-Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a de novo pericentric inversion of chromosome Y
- Brachmann-De Lange syndrome in our population: Clinical and epidemiological characteristics
- Clinical genetics and constipation
- Clinical manifestations in female carriers of mucopolysaccharidosis type II: A spanish cross-sectional study
- Clitoromegaly in neurofibromatosis
- Complete trisomy 9 with pericentric inversion of the chromosome 9
- Complications related to Turner syndrome
- Craniofacial dyssynostosis: Description of the first four Spanish cases and review
- Cromosomopatías por microdeleción: fenotipos principales
- Cutis verticis gyrata in a newborn infant
- Cutis verticis gyrata en un recién nacido
- De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31→qter). Report of a new case
- Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (Laronidase, Aldurazyme®)
- Diagnosis of 9p-syndrome at birth. A new case [8]
- Diagnostic significance of systematic neonatal urinary echography. Therapeutic implications
- Digestive malformations and their associations to syndrome condition and genetic defects
- Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants
- Duplicacion parcial de novo del segmento distal del brazo largo del cromosoma 5 (q31→qter)
- Early Mitochondrial Dysfunction in an Infant With Alexander Disease
- Early clinical and radiological improvement in a young boy with metaphyseal anadysplasia type 2
- Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome
- Ecological transformations: insect-transmitted infections today
- Epidemiological aspects of children of women with a bicornuate uterus
- Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?
- Esophageal atresia in the Goldenhar syndrome
- Familial adenomatous polyposis: Gardner's syndrome
- First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)
- First report of a patient with a mixoploidy 47,XXX / 94,XXXXXX
- Folic acid dose in the prevention of congenital defects
- Frequency of the mutation 677C-T of methylenetetrahydrofolate reductase gene on a sample of 652 Spanish liveborn infants
- Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
- Genetic studies in non-specific mental retardation
- Genetics and hirschsprung's disease
- Hendidura mediana completa del labio inferior y maxilar inferior asociada a cardiopatía congénita compleja
- Hirschsprung's disease: Epidemiology, classification and associated congenital defects
- Holoprosencephaly associated with caudal dysgenesis: A clinical- epidemiological analysis
- Holt-Oram syndrome [4]
- Hydrops fetalis and pulmonary lymphangiectasis due to hypoplastic left heart syndrome
- Infantile spasms in a patient with 18p monosomy
- Intrauterine growth retardation, duodenal and extrahepatic biliary atresia, hypoplastic pancreas and other intestinal anomalies: Further evidence of the Martínez-Frías syndrome
- Joubert syndrome without mental retardation
- Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children
- La genética médica. Pasado, presente y futuro
- Let's talk about genetic counseling
- MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study
- Management and monitoring of patients with Duchenne disease
- Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR geness: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
- Meckel-Gruber syndrome. A new case report
- Median cleft of the lower lip mandible, with complex congenital cardiac disease
- Meningitis caused by Brucella. Apropos of a case
- Molecular characterisation of a mosaicism with a complex chromosome rearrangement: Evidence for coincident chromosome healing by telomere capture and neo-telomere formation
- Mutation update of spinal muscular atrophy in Spain: Molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene
- New findings in craniofacial dyssynostosis [4]
- Nodular urticaria pigmentosa clinically bullosa
- Partial trisomy 18q due to maternal reciprocal translocation 4;18
- Penis agenesis and polymalformative syndrome associated with etretinate maternal ingestion
- Peripheral neuropathy in Ehlers-Danlos syndrome
- Phaeochromocytoma associated with a paraganglion syndrome
- Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example
- Postprandial triacylglycerol metabolism is modified by the presence of genetic variation at the perilipin (PLIN) locus in 2 white populations
- Primary trimethylaminuria or fish odour syndrome: Early diagnosis from primary care
- Revisión de la patología y el rendimiento de nuestra UCI neonatal
- Ring chromosome 18 46,XY,r(18)
- Schuurs–hoeijmakers syndrome (Pacs1 neurodevelopmental disorder): Seven novel patients and a review
- Short rib polydactily type I syndrome. A new case report
- Síndrome de Joubert sin retraso mental
- Síndrome de Waardenburg y la enfermedad de Hirschsprung
- Síndrome del corazón izquierdo hipoplásico, debutando como hydrops fetalis y lifangiectasia pulmonar congénita
- The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability
- The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
- Thyroid papillary carcinoma
- Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum
- Tracheoesophageal fistula, gastrointestinal abnormalities, hypospadias, and prenatal growth deficiency
- Trends in the frequency of Down syndrome in the infants of young mothers in the autonomous communities of Spain
- Trisomía 18q parcial derivada de translocación recíproca 4, ' 18 materna
- Trisomía 18q parcial derivada de translocación recíproca 4, '18 materna
- Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion
- Urticaria pigmentosa nodular, clínicamente bullosa
- Utilización de la hibridación in situ (FISH) en patología pediatríca
- Valoración de los pacientes con enfermedades poco frecuentes
- Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
- Waardenburg syndrome and Hirshsprung disease
- Waardenburg syndrome type 4: Report of two new cases caused by SOX10 mutations in Spain
- X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
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