List of works - Encarna Guillén Navarro

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

scientific article published on 24 December 2009

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

scientific article published in August 2013

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.

scientific article published in March 1998

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

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

scientific article published on March 31, 2012

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

scientific article published on 4 March 2014

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

scientific article published on 21 June 2013

Barth syndrome in adulthood: a clinical case

scientific article published on 21 September 2012

Biliary duct injury: partial segment IV resection for intrahepatic reconstruction of biliary lesions

scientific article published on 01 September 1999

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

scientific article published in June 2010

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

scientific article published on 4 September 2014

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

scientific article

Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis.

scientific article published on 13 October 2011

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies

scientific article published on 05 February 2015

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

scientific article published on 25 June 2013

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

scientific article published on 27 June 2006

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype

scientific article published on 26 March 2014

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

scientific article published on 3 May 2018

Congenital pachyonychia: A new case associated with the KRT17 gene

scientific article published on 24 December 2015

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

scientific article published on 01 July 2018

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

scientific article published on 23 June 2006

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

scientific article published on 03 December 2019

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

scientific article published on 5 April 2018

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

scientific article

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

scientific article published on October 2014

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

scientific article published on 8 January 2007

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

scientific article

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

scientific article published on 18 August 2017

Guía de práctica clínica para el tratamiento del síndrome de Hunter

scientific article published on 21 September 2013

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

article

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

scientific article

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

scientific article published on 01 May 2008

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

scientific article published on 20 October 2015

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

scientific article published on 14 August 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

scientific article

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement

scientific article published on 01 October 2010

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

scientific article published on 20 December 2016

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

scientific article published on 7 November 2011

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

scientific article published on 5 July 2012

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

scientific article published on 01 September 2004

Positional skull deformities in children: skull deformation without synostosis.

scientific article published on 20 October 2005

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I.

scientific article published on October 2008

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome

scientific article published on 25 July 2013

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

scientific article published on 01 June 2006

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

scientific article

Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway ⬇️

scientific article published on February 9, 2012

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

scientific article published on 4 November 2014

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

scientific article published on 22 September 2012

Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum

scientific article published in October 2008

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

scientific article

Robinow syndrome with developmental brain dysplasia.

scientific article published in November 1997

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

scientific article published in March 2007

Schinzel-Giedion syndrome: a new mutation in SETBP1

scientific article published on 28 July 2014

Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis

scientific article

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

scientific article

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

scientific article published on 24 June 2010

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

scientific article published on 29 January 2014

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

scientific article published on 16 September 2015

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

scientific article

[Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]

scientific article published on 20 October 2015

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]

scientific article published on 27 May 2019

[Tuberous sclerosis complex: is there evidence to establish a genotype-phenotype correlation?]

scientific article published on 15 March 2011

[Type I neurofibromatosis and school phobia]

scientific article published on 01 February 2008

List of works by Encarna Guillén Navarro

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation.

A new overgrowth syndrome is due to mutations in RNF125.

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

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

Barth syndrome in adulthood: a clinical case

Biliary duct injury: partial segment IV resection for intrahepatic reconstruction of biliary lesions

CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.

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

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes.

Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis.

Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

Congenital pachyonychia: A new case associated with the KRT17 gene

Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

Guía de práctica clínica para el tratamiento del síndrome de Hunter

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

Molecular characterization of a new patient with a non-recurrent inv dup del 2q and review of the mechanisms for this rearrangement

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

Positional skull deformities in children: skull deformation without synostosis.

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I.

Pre- and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with San Luis Valley syndrome

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

Rapp–Hodgkin syndrome and SHFM1 patients: Delineating the p63–Dlx5/Dlx6 pathway ⬇️

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Review of 22 patients with 22q11.2 deletion syndrome: phenotype spectrum

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Robinow syndrome with developmental brain dysplasia.

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Schinzel-Giedion syndrome: a new mutation in SETBP1

Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

[Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]

[First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by balletic mutations in the OTUD6B gene]

[Tuberous sclerosis complex: is there evidence to establish a genotype-phenotype correlation?]

[Type I neurofibromatosis and school phobia]