Lista de obras - Annachiara De Sandre-Giovannoli

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

artículo científico publicado en 2011

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

scientific article published on 14 October 2016

A New Lamin A Mutation Associated with Acrogeria Syndrome

artículo científico publicado en 2014

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

artículo científico publicado en 2013

A conserved splicing mechanism of the LMNA gene controls premature aging.

artículo científico publicado en 2011

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

artículo científico publicado en 2016

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

artículo científico publicado en 2013

Altered splicing in prelamin A-associated premature aging phenotypes

artículo científico publicado en 2006

An association of Hutchinson–Gilford progeria and malignancy

artículo científico publicado en 2007

An inheritedLMNAgene mutation in atypical Progeria syndrome

artículo científico publicado en 2012

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

artículo científico publicado en 2015

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

artículo científico publicado en 2018

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

scientific article published on 11 July 2016

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

artículo científico publicado en 2005

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

artículo científico publicado en 2020

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

artículo científico publicado en 2018

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

artículo científico publicado en 2019

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

artículo científico publicado en 2016

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

artículo científico publicado en 2014

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

artículo científico publicado en 2017

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

artículo científico publicado en 2020

First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope

artículo científico publicado en 2015

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

artículo científico publicado en 2008

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

artículo científico publicado en 2006

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches

artículo científico publicado en 2008

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

artículo científico publicado en 2005

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

artículo científico publicado en 2002

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

scientific article published on 14 February 2019

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome

artículo científico publicado en 2014

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

artículo científico publicado en 2010

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

artículo científico publicado en 2004

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

scientific article published on 06 December 2018

Lamin a truncation in Hutchinson-Gilford progeria.

artículo científico publicado en 2003

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

scientific article published on 11 September 2020

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

artículo científico publicado en 2005

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

artículo científico publicado en 2017

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

artículo científico publicado en 2017

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

artículo científico publicado en 2018

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

artículo científico publicado en 2006

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

artículo científico publicado en 2013

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

scientific article published on 18 December 2008

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

artículo científico publicado en 2016

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

article

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

artículo científico

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

scientific article published on 11 December 2019

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

artículo científico publicado en 2018

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

artículo científico publicado en 2003

Restrictive dermopathy in a Turkish newborn

artículo científico publicado en 2010

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

article

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

artículo científico publicado en 2003

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

artículo científico publicado en 2005

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

artículo científico publicado en 2015

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

artículo científico publicado en 2011

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

artículo científico publicado en 2012

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

artículo científico publicado en 2020

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

artículo científico publicado en 2014

Lista de obras de Annachiara De Sandre-Giovannoli

A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

A High Throughput Phenotypic Screening reveals compounds that counteract premature osteogenic differentiation of HGPS iPS-derived mesenchymal stem cells

A New Lamin A Mutation Associated with Acrogeria Syndrome

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

A conserved splicing mechanism of the LMNA gene controls premature aging.

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

Altered splicing in prelamin A-associated premature aging phenotypes

An association of Hutchinson–Gilford progeria and malignancy

An inheritedLMNAgene mutation in atypical Progeria syndrome

An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases.

An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.

Antisense-Based Progerin Downregulation in HGPS-Like Patients' Cells

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes.

Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA

First Italo-French meeting on laminopathies and other pathologies related to the nuclear envelope

Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

Identification of a ERCC5 c.2333T>C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype

Induced pluripotent stem cells reveal functional differences between drugs currently investigated in patients with hutchinson-gilford progeria syndrome

LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis

Lamin a truncation in Hutchinson-Gilford progeria.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Low lamin A expression in lung adenocarcinoma cells from pleural effusions is a pejorative factor associated with high number of metastatic sites and poor Performance status.

MG132-induced progerin clearance is mediated by autophagy activation and splicing regulation.

MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies

Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease

Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation

Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes.

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations

Restrictive dermopathy in a Turkish newborn

Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant

Truncated prelamin A expression in HGPS-like patients: a transcriptional study.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

Vulnerability of progeroid smooth muscle cells to biomechanical forces is mediated by MMP13

WITHDRAWN: Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective