Lista de obras - Corrado Romano - Dominio Público Uruguay

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

artículo científico publicado en 2007

12q12 deletion: A new patient contributing to genotype–phenotype correlation

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

2nd international meeting on cryptic chromosomal rearrangements in mental retardation and autism

artículo científico publicado en 2006

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

artículo científico publicado en 2013

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

artículo científico publicado en 2007

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

artículo científico publicado en 2013

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

artículo científico publicado en 2006

A CASE OF FG SYNDROME WITH GINGIVAL HYPERPLASIA AND KELOIDS

artículo científico publicado en 1995

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

artículo científico publicado en 2014

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

artículo científico

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

artículo científico publicado en 1995

A gene for FG syndrome maps in the Xq12-q21.31 region

artículo científico publicado en 1997

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

artículo científico publicado en 2017

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

artículo científico publicado en 2002

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

artículo científico publicado en 2006

A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America.

artículo científico publicado en 1999

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

artículo científico publicado en 2008

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

artículo científico publicado en 2010

Alopecia areata in Down syndrome: a clinical evaluation.

artículo científico publicado en 2005

An Additional Case of Macular Phylloid Mosaicism

artículo científico publicado en 2001

An Updated Survey on Skin Conditions in Down Syndrome

scientific article published on 01 January 2002

An additional case of linear and whorled nevoid hypermelanosis associated with birth defects and mental retardation

artículo científico publicado en 1999

An intriguing case of LEOPARD syndrome

artículo científico publicado en 1998

An unusual presentation of Becker Nevus

artículo científico publicado en 2010

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

artículo científico publicado en 2011

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

artículo científico publicado en 2020

Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome

artículo científico publicado en 1996

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

artículo científico publicado en 2019

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria

artículo científico publicado el 1 de noviembre de 1992

Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome

artículo científico publicado en 1990

Cardiofaciocutaneous (CFC) syndrome.

artículo científico publicado en 1999

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

artículo científico publicado en 2000

Celiac Disease in Down's Syndrome with HLA Serological and Molecular Studies

article

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

artículo científico publicado en 2008

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

artículo científico publicado en 2010

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

artículo científico publicado en 2009

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

artículo científico publicado en 2007

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

artículo científico publicado en 2001

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

artículo científico publicado en 2010

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

artículo científico publicado en 2011

Denaturing HPLC-based assay for detection of ATRX gene mutations.

artículo científico publicado en 2005

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

artículo científico publicado en 2016

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

artículo científico publicado en 2013

Disruptive CHD8 mutations define a subtype of autism early in development

artículo científico publicado en 2014

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

artículo científico publicado en 2015

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

artículo científico publicado en 2019

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

artículo científico publicado en 2019

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

artículo científico publicado en 2014

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

artículo científico publicado en 2014

Expression of miR-132 in Down syndrome subjects

artículo científico publicado en 2018

Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?

artículo científico publicado en 2001

Facies: the value of an old diagnostic tip in pediatric dermatology.

artículo científico publicado en 2017

Failure of fluoxetine to modify the skin‐picking behaviour of Prader‐Willi syndrome ⬇️

artículo científico publicado el 1 de febrero de 1998

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

artículo científico publicado en 2010

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

artículo científico publicado en 2009

Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader-Willi and the Down syndromes.

artículo científico publicado en 2007

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

artículo científico publicado en 2008

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

artículo científico publicado en 2009

Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects

article

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

artículo científico publicado en 2009

Growth hormone subnormality in Down syndrome

artículo científico publicado el 15 de julio de 1992

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

artículo científico publicado en 2017

Ichthyosis and neutral lipid storage disease

artículo científico publicado en 1988

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

artículo científico publicado en 2005

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

artículo científico publicado en 2008

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

artículo científico publicado en 2013

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

artículo científico publicado en 2014

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

artículo científico publicado en 2013

Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).

artículo científico publicado en 2008

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome

artículo científico publicado en 2014

Is there a relationship between zinc and the peculiar comorbidities of Down syndrome?

article

LOCALIZED ELASTOSIS PERFORANS SERPIGINOSA IN A BOY WITH DOWN SYNDROME

artículo científico publicado en 1997

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Low AMH levels as a marker of reduced ovarian reserve in young women affected by Down's syndrome.

artículo científico publicado en 2016

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

artículo científico publicado en 2015

Medial Telangiectatic Sacral Nevi (Types A and C) Associated with Williams Syndrome

article

Medial Telangiectatic Sacral Nevi and Mca/Mr Syndromes

artículo científico publicado en 2003

Mitochondrial mRNA expression in fibroblasts of Down syndrome subjects

artículo científico publicado en 2018

Molecular analysis of aldolase B genes in hereditary fructose intolerance

artículo científico publicado en 1990

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

artículo científico publicado en 2011

Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome

artículo científico publicado en 2013

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

artículo científico publicado en 2016

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

artículo científico publicado en 2006

Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results.

artículo científico publicado en 2005

Neuroendocrine features of pubertal development in females with mental retardation

artículo científico publicado en 2001

Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome.

artículo científico publicado en 2018

PTEN gene: a model for genetic diseases in dermatology.

artículo científico publicado en 2012

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome

artículo científico publicado en 1999

Perforating Milia-like Idiopathic Calcinosis Cutis and Periorbital Syringomas in a Girl With Down Syndrome

article

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

artículo científico publicado en 1991

Piezogenic pedal papules during Prader-Willi syndrome

scientific article published on 01 January 2005

Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene

artículo científico publicado en 2001

Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

article

Prevalence of atopic dermatitis in patients with Down syndrome: a clinical survey.

artículo científico publicado en 1997

Progressive Cribriform and Zosteriform Hyperpigmentation: The Late-Onset Feature of Linear and Whorled Nevoid Hypermelanosis Associated with Congenital Neurological, Skeletal and Cutaneous Anomalies

artículo científico publicado en 1999

RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome

artículo científico publicado en 2007

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

artículo científico publicado en 2013

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

artículo científico publicado en 2018

Recurrent duplications of 17q12 associated with variable phenotypes.

artículo científico publicado en 2015

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refining analyses of copy number variation identifies specific genes associated with developmental delay

artículo científico publicado en 2014

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

artículo científico publicado en 2011

Response to Phelan K. et al.: Letter to the Editor Regarding Disciglio et al: Interstitial 22q13 deletions not involvingSHANK3gene: A new contiguous gene syndrome

article

Rubinstein-Taybi Syndrome with Epidermal Nevus: A Case Report

artículo científico publicado en 2001

SKIN-PICKING: THE BEST CUTANEOUS FEATURE IN THE RECOGNIZATION OF PRADER-WILLI SYNDROME

artículo científico publicado en 1994

SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes

artículo científico publicado en 2009

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

artículo científico publicado en 1996

Schizophrenia in a patient with subtelomeric duplication of chromosome 22q

Searching for new pharmacological targets for the treatment of Alzheimer's disease in Down syndrome.

artículo científico publicado en 2017

Seroepidemiological Survey on the Impact of Smoking on SARS-CoV-2 Infection and COVID-19 Outcomes: Protocol for the Troina Study

artículo científico publicado en 2021

Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome

artículo científico publicado en 2003

Sulphation deficit in "low-functioning" autistic children: a pilot study

artículo científico publicado en 1999

TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16.

artículo científico publicado en 2017

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability

scholarly article by Anna Morgan published in November 2015

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

artículo científico publicado en 2017

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

artículo científico publicado en 2009

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

artículo científico publicado en 2015

The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: a case-control study and a meta-analysis.

artículo científico publicado en 2013

The MTRR 66A>G polymorphism and maternal risk of birth of a child with Down syndrome in Caucasian women: a case–control study and a meta-analysis

article

The Methylenetetrahydrofolate Reductase C677T Polymorphism and Risk for Late-Onset Alzheimer's disease: Further Evidence in an Italian Multicenter Study

artículo científico publicado en 2017

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

artículo científico publicado en 2011

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

artículo científico publicado en 2013

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

artículo científico publicado en 2018

The molecular landscape of ASPM mutations in primary microcephaly

artículo científico publicado en 2008

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

artículo científico publicado en 2014

Three new patients with dup(17)(p11.2p11.2) without autism

artículo científico publicado en 2008

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Lista de obras de Corrado Romano

1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features.

12q12 deletion: A new patient contributing to genotype–phenotype correlation

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

2nd international meeting on cryptic chromosomal rearrangements in mental retardation and autism

3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients

3rd International Meeting on Cryptic Chromosomal Rearrangements in Mental Retardation and Autism

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

A CASE OF FG SYNDROME WITH GINGIVAL HYPERPLASIA AND KELOIDS

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

A gene for FG syndrome maps in the Xq12-q21.31 region

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus?

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

A prevalence study of celiac disease in persons with Down syndrome residing in the United States of America.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Alopecia areata in Down syndrome: a clinical evaluation.

An Additional Case of Macular Phylloid Mosaicism

An Updated Survey on Skin Conditions in Down Syndrome

An additional case of linear and whorled nevoid hypermelanosis associated with birth defects and mental retardation

An intriguing case of LEOPARD syndrome

An unusual presentation of Becker Nevus

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Basal body temperature curves and endocrine pattern of menstrual cycles in Down syndrome

Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria

Brain dysfunction and the immune system: lymphocyte's beta-adrenergic receptor in Down syndrome

Cardiofaciocutaneous (CFC) syndrome.

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Celiac Disease in Down's Syndrome with HLA Serological and Molecular Studies

Cerebriform plantar hyperplasia: the major cutaneous feature of Proteus syndrome

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon.

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

Denaturing HPLC-based assay for detection of ATRX gene mutations.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Disruptive CHD8 mutations define a subtype of autism early in development

Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

Expression of Phosphodiesterase 4B cAMP-Specific Gene in Subjects With Cryptorchidism and Down's Syndrome.

Expression of miR-132 in Down syndrome subjects

Facial and skeletal malformations, mental retardation, aganglionosis, and neurogenic muscle weakness: a variant of Niikawa-Kuroki syndrome or a new syndrome?

Facies: the value of an old diagnostic tip in pediatric dermatology.

Failure of fluoxetine to modify the skin‐picking behaviour of Prader‐Willi syndrome ⬇️

Familial 1.1 Mb deletion in chromosome Xq22.1 associated with mental retardation and behavioural disorders in female patients

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader-Willi and the Down syndromes.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects

Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome.

Growth hormone subnormality in Down syndrome

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Ichthyosis and neutral lipid storage disease

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells

Increased FGF3 and FGF4 gene dosage is a risk factor for craniosynostosis

Inflammatory bowel disease in children and adolescents in Italy: data from the pediatric national IBD register (1996-2003).