Lista de obras - Marco Seri - Dominio Público Uruguay

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

artículo científico publicado en 2013

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

article

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

scientific article published on 04 December 2009

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

artículo científico publicado en 2009

A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing

artículo científico publicado en 1998

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

artículo científico publicado en 2014

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

artículo científico publicado en 2012

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

artículo científico publicado en 2013

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

artículo científico publicado en 2012

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

artículo científico publicado en 2013

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

artículo científico publicado en 2020

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

scientific journal article

ANKRD26-related thrombocytopenia and myeloid malignancies

artículo científico publicado en 2013

Adult-onset Alexander disease

Alport syndrome caused by a 5' deletion within the COL4A5 gene

artículo científico publicado el 1 de abril de 1992

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum

artículo científico publicado en 2012

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction

article

Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways

artículo científico publicado en 2012

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

artículo científico publicado en 2009

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

artículo científico publicado en 1998

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

artículo científico publicado en 2015

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

artículo científico publicado en 2014

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

article

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

artículo científico publicado en 2004

Chromosomal localization of the genes (CLNS1A and CLNS1B) coding for the swelling-dependent chloride channel ICln

artículo científico publicado en 1996

Clinical and genetic characterization of Chanarin–Dorfman syndrome

artículo científico publicado en 2008

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

scientific article published on 01 December 1999

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

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

artículo científico publicado en 2007

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

artículo científico publicado en 2015

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

artículo científico publicado el 1 de mayo de 1992

Deciphering Chronic Intestinal Pseudo-Obstruction: Do Mice Help to Solve the Riddle?

artículo científico publicado en 2007

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

artículo científico publicado en 2011

EX-HOM (EXome HOMozygosity): a proof of principle

artículo científico publicado en 2011

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

artículo científico publicado en 2013

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

artículo científico publicado en 2013

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

artículo científico publicado en 2001

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

article

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

artículo científico publicado en 2011

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina

artículo científico publicado en 2013

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

article

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

artículo científico publicado en 2002

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

artículo científico publicado en 2007

Genetics of human enteric neuropathies.

artículo científico

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

H3M2: detection of runs of homozygosity from whole-exome sequencing data

artículo científico publicado en 2014

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

artículo científico publicado en 2010

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

artículo científico publicado en 2015

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

artículo científico publicado en 1998

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations

artículo científico publicado en 2014

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

artículo científico publicado en 2002

Inherited thrombocytopenias frequently diagnosed in adults

artículo científico publicado en 2013

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

artículo científico publicado en 2005

Involvement of the HLXB9 homeobox gene in Currarino syndrome

artículo científico publicado en 2000

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

artículo científico publicado en 1999

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).

artículo científico publicado en 2014

Linkage exclusion in Italian families with hereditary essential tremor

artículo científico publicado en 2011

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

artículo científico publicado en 2000

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

artículo científico publicado en 2007

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

artículo científico publicado en 2005

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

artículo científico publicado en 2003

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

artículo científico publicado en 2013

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

artículo científico publicado en 2014

Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes

artículo científico publicado en 2002

Messenger RNA processing is altered in autosomal dominant leukodystrophy

artículo científico publicado en 2015

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

artículo científico publicado en 2005

Molecular characterization of the P and I variants of α1-antitrypsin

artículo científico publicado en 1992

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

artículo científico publicado en 2009

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

artículo científico publicado en 2000

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

artículo científico publicado en 2015

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

artículo científico publicado en 2011

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

artículo científico publicado en 2014

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature

scholarly article by Iria Neri published in January 2016

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

artículo científico publicado en 2010

PHOX2B mutations and genetic predisposition to neuroblastoma

Persistence of a monosomic cell line in a fetus with mosaic trisomy 8

article

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

artículo científico publicado en 2014

Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.

artículo científico publicado en 2014

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

artículo científico publicado en 2008

Prenatal genetic counseling referrals for advanced maternal age: still room for improvement

scientific article published on 01 January 2014

Preservation of clonal heterogeneity of the Pneumocystis carinii-specific CD4 T cell repertoire in HIV infected, asymptomatic individuals

artículo científico publicado en 2002

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

artículo científico publicado en 2010

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome

artículo científico publicado en 2006

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

article

Repertoire Breadth of Human CD4+ T Cells Specific for HIV gp120 and p66 (Primary Antigens) or for PPD and Tetanus Toxoid (Secondary Antigens) ⬇️

artículo científico publicado el 1 de marzo de 1998

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

artículo científico publicado en 2005

SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

article

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

artículo científico publicado en 2008

Strategies for the Identification of Intron–Exon Boundaries and Point Mutations: The Example of theRETProto-Oncogene

scientific article published on 01 February 1996

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

article published in 2013

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

artículo científico publicado en 2012

Weak linkage at 4p16 to predisposition for human neuroblastoma

artículo científico publicado en 2002

Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

artículo científico publicado en 2013

miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma

artículo científico publicado en 2024

Lista de obras de Marco Seri

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.

A method for point mutation analysis that links SSCP and dye primer fluorescent sequencing

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

ANKRD26-related thrombocytopenia and myeloid malignancies

Adult-onset Alexander disease

Alport syndrome caused by a 5' deletion within the COL4A5 gene

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: Confirmation of a rare clinical spectrum

Analysis of candidate genes for intrinsic neuropathy in a family with chronic idiopathic intestinal pseudo-obstruction

Apolipoprotein B is a new target of the GDNF/RET and ET-3/EDNRB signalling pathways

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation

Association of multiple endocrine neoplasia type 2 and Hirschsprung disease.

Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene

Chromosomal localization of the genes (CLNS1A and CLNS1B) coding for the swelling-dependent chloride channel ICln

Clinical and genetic characterization of Chanarin–Dorfman syndrome

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

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

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome

Deciphering Chronic Intestinal Pseudo-Obstruction: Do Mice Help to Solve the Riddle?

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

EX-HOM (EXome HOMozygosity): a proof of principle

EXCAVATOR: detecting copy number variants from whole-exome sequencing data

Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p

Genetics of human enteric neuropathies.

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

H3M2: detection of runs of homozygosity from whole-exome sequencing data

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Identifying gene-environment interactions in schizophrenia: contemporary challenges for integrated, large-scale investigations

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Inherited thrombocytopenias frequently diagnosed in adults

Interaction of the LMX1B and PAX2 gene products suggests possible molecular basis of differential phenotypes in Nail-Patella syndrome.

Involvement of the HLXB9 homeobox gene in Currarino syndrome

KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).

Linkage exclusion in Italian families with hereditary essential tremor

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Localization of a gene for nonsyndromic renal hypodysplasia to chromosome 1p32-33

MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. ⬇️

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes

Messenger RNA processing is altered in autosomal dominant leukodystrophy

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene

Molecular characterization of the P and I variants of α1-antitrypsin

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium

Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.