Lista de obras - Fiorella Gurrieri - Dominio Público Uruguay

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy

artículo científico publicado en 2015

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

artículo científico publicado en 2003

A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes

artículo científico publicado en 2004

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

artículo científico publicado en 2005

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

artículo científico publicado en 2005

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

artículo científico publicado en 2015

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

artículo científico publicado en 2013

Coding exons function as tissue-specific enhancers of nearby genes

artículo científico publicado en 2012

Colchicine trial in PFAPA Syndrome and MEFV-negative patients.

artículo científico publicado en 2015

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

artículo científico publicado en 2012

Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura.

artículo científico publicado en 2018

Defective oxytocin function: a clue to understanding the cause of autism?

artículo científico publicado en 2009

Distinct neurological disorders with ATP1A3 mutations

artículo científico publicado en 2014

Elements of morphology: standard terminology for the hands and feet.

artículo científico publicado en 2009

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

artículo científico publicado en 2013

Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

artículo científico publicado en 2016

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

artículo científico publicado en 2006

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

artículo científico publicado en 2012

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

artículo científico publicado en 2001

Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders

artículo científico publicado en 2008

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

artículo científico publicado en 2010

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

artículo científico publicado en 1994

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

artículo científico publicado en 2007

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

artículo científico publicado en 2009

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series

artículo científico publicado en 2015

New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.

artículo científico publicado en 1992

Oral–facial–digital syndromes: Review and diagnostic guidelines

article

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism

artículo científico publicado en 2010

PFAPA syndrome as an hereditary autoinflamatory disorder.

artículo científico publicado en 2015

Recognizable facial features in patients with alternating hemiplegia of childhood

artículo científico publicado en 2016

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

artículo científico publicado en 2006

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

artículo científico publicado en 2010

The genetics of epilepsy

artículo científico publicado en 2001

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

artículo científico publicado en 2004

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

artículo científico publicado en 2005

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

artículo científico publicado en 1995

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype

artículo científico publicado en 2015

XLMR genes: update 1990.

artículo científico publicado en 1991

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

artículo científico publicado en 2001

Lista de obras de Fiorella Gurrieri

A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes

A novel microdeletion syndrome with loss of the MSH2 locus and hereditary non-polyposis colorectal cancer.

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.

Coding exons function as tissue-specific enhancers of nearby genes

Colchicine trial in PFAPA Syndrome and MEFV-negative patients.

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura.

Defective oxytocin function: a clue to understanding the cause of autism?

Distinct neurological disorders with ATP1A3 mutations

Elements of morphology: standard terminology for the hands and feet.

Encomium: Giovanni Neri--polyhedral and down-to-earth mentor.

Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

Functional characterization of tissue-specific enhancers in the DLX5/6 locus

Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split-hand/split-foot malformation type 3.

Hypo-phosphorylation of salivary peptidome as a clue to the molecular pathogenesis of autism spectrum disorders

Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

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

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series

New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.

Oral–facial–digital syndromes: Review and diagnostic guidelines

PCR and serology find no association between xenotropic murine leukemia virus-related virus (XMRV) and autism

PFAPA syndrome as an hereditary autoinflamatory disorder.

Recognizable facial features in patients with alternating hemiplegia of childhood

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.

The genetics of epilepsy

Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.

Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndrome

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.

Variable expressivity of a familial 1.9 Mb microdeletion in 3q28 leading to haploinsufficiency of TP63: Refinement of the critical region for a new microdeletion phenotype

XLMR genes: update 1990.

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.