Lista de obras -

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

artículo científico publicado en 2012

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

artículo científico publicado en 2016

Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene

artículo científico publicado en 2007

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 ⬇️

artículo científico publicado el 17 de julio de 2013

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

artículo científico publicado en 2016

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

artículo científico publicado en 2014

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

artículo científico publicado en 2010

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

artículo científico publicado en 2014

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

artículo científico publicado en 2002

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

artículo científico publicado en 2014

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

artículo científico publicado en 2019

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

artículo científico publicado en 2015

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

artículo científico publicado en 2010

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

artículo científico publicado en 2002

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

artículo científico publicado en 2015

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

artículo científico publicado en 2018

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

artículo científico publicado en 2006

Ovarian failure related to eukaryotic initiation factor 2B mutations

artículo científico publicado en 2003

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

artículo científico publicado en 2015

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

artículo científico publicado en 2010

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

scientific article published on 01 October 2011

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

artículo científico publicado en 2014

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

artículo científico publicado en 2012

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

artículo científico publicado en 2011

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

scientific article published on 09 April 2018

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

artículo científico publicado en 2017

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

artículo científico publicado en 2003

eIF2B and Cree Indian leukodystrophies

scientific article published on 01 March 2003

Lista de obras de

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome

A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation

Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene

An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3 ⬇️

Characterization by microarray and meiotic segregation study of a der(10)t(10;18) in a patient with infertility and normal phenotype

Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations

Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate.

Deleterious mutations in ALDH1L2 suggest a novel cause for neuro-ichthyotic syndrome

Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

Mutation in causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

Ovarian failure related to eukaryotic initiation factor 2B mutations

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

Prenatal detection of cryptic rearrangements by multiplex ligation probe amplification in fetuses with ultrasound abnormalities.

Prenatal diagnosis of a rare de novo centromeric chromosome 6 variant

Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).

Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.

Sperm meiotic segregation of a balanced interchromosomal reciprocal insertion resulting in recurrent spontaneous miscarriage

TERT promoter status and gene copy number gains: effect on TERT expression and association with prognosis in breast cancer

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

eIF2B and Cree Indian leukodystrophies