Lista de obras - Lina Basel-Vanagaite - Dominio Público Uruguay

A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes ⬇️

artículo científico publicado el 16 de septiembre de 2010

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

artículo científico publicado en 2015

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

artículo científico publicado en 2015

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

artículo científico publicado en 2013

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

artículo científico publicado en 2014

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.

artículo científico publicado en 2013

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

scientific journal article

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

artículo científico publicado en 2006

Amniotic trisomy 11 mosaicism—is it a benign finding?

article

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

artículo científico publicado en 2002

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

artículo científico publicado en 2002

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

artículo científico publicado en 2011

Autosomal dominant isolated question mark ear

artículo científico publicado en 2008

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

artículo científico publicado en 2007

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

scientific article published on 01 August 2007

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

artículo científico publicado en 2013

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

artículo científico publicado en 2003

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

artículo científico publicado en 2002

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

artículo científico publicado en 2013

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

artículo científico publicado en 2011

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly ⬇️

artículo científico publicado el 1 de julio de 2010

Clinical approaches to genetic mental retardation.

artículo científico publicado en 2008

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

artículo científico publicado en 2010

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

artículo científico publicado en 2019

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

scientific journal article

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

artículo científico publicado en 2013

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

artículo científico publicado en 2008

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

artículo científico publicado en 2004

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

artículo científico publicado en 2014

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

artículo científico

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

artículo científico publicado en 2008

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

artículo científico publicado en 2014

Expanding the phenotypic spectrum of L1CAM-associated disease.

artículo científico publicado en 2006

Familial hydrocephalus with normal cognition and distinctive radiological features

article

Fetal alcohol spectrum disorder in Israel

artículo científico publicado en 2009

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

artículo científico publicado en 2001

G protein-coupled receptor-dependent development of human frontal cortex

artículo científico publicado en 2004

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

artículo científico publicado en 2008

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

artículo científico publicado en 2013

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

artículo científico publicado en 2007

Genotype-phenotype correlation in 22q11.2 deletion syndrome

artículo científico publicado en 2012

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

artículo científico publicado en 2013

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

artículo científico publicado en 2011

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

artículo científico publicado en 2015

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

artículo científico publicado en 2017

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

artículo científico publicado en 2013

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

artículo científico publicado en 2015

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.

artículo científico publicado en 2016

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

artículo científico publicado en 2015

Keppen-Lubinsky syndrome: Expanding the phenotype.

artículo científico publicado en 2009

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

artículo científico publicado en 2014

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

artículo científico publicado en 2009

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

artículo científico publicado en 2013

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

artículo científico publicado en 2012

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

artículo científico publicado en 2006

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

artículo científico publicado en 2013

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

artículo científico publicado en 2013

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 2013

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

artículo científico publicado en 2011

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

artículo científico publicado en 2011

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

artículo científico publicado en 2006

Psychiatric morbidity with focus on obsessive-compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation

artículo científico publicado en 2008

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

artículo científico publicado en 2009

Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

artículo científico publicado en 2007

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

artículo científico publicado en 2015

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

Seventeen novel mutations that cause profound biotinidase deficiency.

artículo científico publicado en 2002

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

artículo científico publicado en 2020

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

artículo científico publicado en 2010

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

artículo científico publicado en 2011

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

artículo científico publicado en 2012

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

article

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

artículo científico publicado en 2014

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

scientific article published on 17 August 2020

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2017

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?

artículo científico publicado en 2011

Yunis-Varon syndrome: further delineation of the phenotype

artículo científico publicado en 2008

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

artículo científico publicado en 2012

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

artículo científico publicado en 2008

Lista de obras de Lina Basel-Vanagaite

A Comparative Study of Hearing Loss in Two Microdeletion Syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes ⬇️

A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis

A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family.

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly

Allele dosage-dependent penetrance of RET proto-oncogene in an Israeli-Arab inbred family segregating Hirschsprung disease

Amniotic trisomy 11 mosaicism—is it a benign finding?

An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.

Autosomal dominant isolated question mark ear

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

Broad phenotypic heterogeneity due to a novel SCN1A mutation in a family with genetic epilepsy with febrile seizures plus

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype.

Clinical and Brain Imaging Heterogeneity of Severe Microcephaly ⬇️

Clinical approaches to genetic mental retardation.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus

Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Expanding the phenotypic spectrum of L1CAM-associated disease.

Familial hydrocephalus with normal cognition and distinctive radiological features

Fetal alcohol spectrum disorder in Israel

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

G protein-coupled receptor-dependent development of human frontal cortex

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Genetics of autosomal recessive non-syndromic mental retardation: recent advances.

Genotype-phenotype correlation in 22q11.2 deletion syndrome

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.

Keppen-Lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6.

Keppen-Lubinsky syndrome: Expanding the phenotype.

Lethal neonatal rigidity and multifocal seizure syndrome – Report of another family with a BRAT1 mutation

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in PIK3R1 cause SHORT syndrome

New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Psychiatric morbidity with focus on obsessive-compulsive disorder in an Israeli cohort of adolescents with mild to moderate mental retardation

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

Rapid development of post-radiotherapy sarcoma and breast cancer in a patient with a novel germline 'de-novo' TP53 mutation.

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Seventeen novel mutations that cause profound biotinidase deficiency.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene

Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: A new genetic syndrome?

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22.

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome?