Lista de obras - Sabrina Giglio - Dominio Público Uruguay

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

artículo científico publicado en 2007

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

artículo científico publicado en 2005

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review

artículo científico publicado en 2014

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

artículo científico publicado en 2014

A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study.

artículo científico publicado en 2018

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

artículo científico publicado en 1997

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

article

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

artículo científico publicado en 2016

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

artículo científico publicado en 2016

Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient

artículo científico publicado en 2016

CENP-G in neocentromeres and inactive centromeres

artículo científico publicado en 2000

Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?

scientific article published on 13 June 2018

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.

artículo científico publicado en 2017

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

artículo científico publicado en 1998

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

artículo científico publicado en 2017

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

artículo científico publicado en 2016

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

artículo científico publicado en 2014

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia

artículo científico publicado en 2015

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

scientific article published on 01 April 2011

Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

De novo unbalanced translocations have a complex history/aetiology

artículo científico publicado en 2018

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

artículo científico publicado en 2012

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

artículo científico publicado en 2000

Determinants of vitamin d levels in children and adolescents with down syndrome

artículo científico publicado en 2015

Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases.

artículo científico publicado en 2014

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

artículo científico publicado en 2017

Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay

artículo científico publicado en 2016

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

artículo científico publicado en 2020

Expression of β-adrenergic receptors in pediatric malignant brain tumors.

artículo científico publicado en 2012

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

artículo científico publicado en 2011

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

artículo científico publicado en 2014

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 counseling during COVID-19 pandemic: Tuscany experience

artículo científico publicado en 2020

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

scientific article published on 15 July 2019

Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.

artículo científico publicado en 2010

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression

artículo científico publicado en 2014

Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

artículo científico publicado en 2015

Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene

artículo científico publicado en 1998

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

artículo científico publicado en 1996

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

artículo científico publicado en 2014

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

artículo científico publicado en 2011

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

artículo científico publicado en 2009

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

artículo científico publicado en 2001

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

scientific article published on 01 August 2000

Inverted duplications: how many of them are mosaic?

artículo científico publicado en 2004

Jumping translocations in acute lymphoblastic leukemia

scientific article published on 01 March 1995

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

artículo científico publicado en 2017

Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?

artículo científico publicado en 2016

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.

artículo científico publicado en 2014

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

artículo científico publicado en 2009

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

artículo científico publicado en 2017

Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cells.

artículo científico publicado en 2012

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

artículo científico publicado en 2019

Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.

artículo científico publicado en 2016

Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

artículo científico publicado en 2020

Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review

article

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

artículo científico publicado en 2000

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

artículo científico publicado en 2015

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

artículo científico publicado en 2008

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

article

Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.

artículo científico publicado en 2015

Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549, 931 births in Tuscany

artículo científico publicado en 2014

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

artículo científico publicado en 2020

Reciprocal translocations: a trap for cytogenetists?

artículo científico publicado en 2005

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

artículo científico publicado en 2014

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

artículo científico publicado en 2014

Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

scientific article published on 12 December 2019

Ruxolitinib is an effective treatment forCALR-positive patients with myelofibrosis

scientific article published on 25 August 2015

SLMSuite: a suite of algorithms for segmenting genomic profiles.

artículo científico

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

artículo científico publicado en 2017

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

artículo científico publicado en 2018

Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics

article

Structure and mutation analysis of the glycogen storage disease type 1b gene.

artículo científico publicado en 1998

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

artículo científico publicado en 2014

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis

artículo científico publicado en 2017

Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes

artículo científico publicado en 2014

Transient hyperoxaluria in a patient with inherited distal renal tubular acidosis

artículo científico publicado en 2010

Transmission of a fully functional human neocentromere through three generations

artículo científico publicado en 1999

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

artículo científico publicado en 2007

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

artículo científico publicado en 2009

Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation

scientific article published on 17 June 2020

Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.

artículo científico publicado en 2013

Lista de obras de Sabrina Giglio

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

A systematic review of the risk factors for clinical response to opioids for all-age patients with cancer-related pain and presentation of the paediatric STOP pain study.

Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): imprinting effect or nullisomy for distal 8p genes?

Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Bone mineral status and metabolism in patients with Williams-Beuren syndrome

Brain tumors in Li-Fraumeni syndrome: a commentary and a case of a gliosarcoma patient

CENP-G in neocentromeres and inactive centromeres

Can HbA1c combined with fasting plasma glucose help to assess priority for GCK-MODY vs HNF1A-MODY genetic testing?

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.

Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

Clinical and molecular characterization of a novel INS mutation identified in patients with MODY phenotype.

Coeliac disease and risk for other autoimmune diseases in patients with Williams-Beuren syndrome.

Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome.

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

De novo unbalanced translocations have a complex history/aetiology

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

Determinants of vitamin d levels in children and adolescents with down syndrome

Diabetes mellitus in a girl with thyroid hormone resistance syndrome: a little recognized interaction between the two diseases.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Duplication of FOXP2 binding sites within CNTNAP2 gene in a girl with neurodevelopmental delay

Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies

Expression of β-adrenergic receptors in pediatric malignant brain tumors.

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including the AKT3 gene.

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 counseling during COVID-19 pandemic: Tuscany experience

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition

Growth hormone therapy-related hyperglycaemia in a boy with renal cystic hypodysplasia and a new mutation of the HNF1 beta gene.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Heterogeneous genetic alterations in sporadic nephrotic syndrome associate with resistance to immunosuppression

Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

Identification and characterization of a new human gene encoding a small protein with high homology to the proline-rich region of the SH3BGR gene

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

Inverted duplications: how many of them are mosaic?

Jumping translocations in acute lymphoblastic leukemia

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

Lessons from genetics: is it time to revise the therapeutic approach to children with steroid-resistant nephrotic syndrome?

Long-term auxological and endocrinological evaluation of patients with 9p trisomy: a focus on the growth hormone-insulin-like growth factor-I axis.

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes

Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene

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

Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

Multiorgan infiltration by CD8+ T cells and 1p;16p translocation in a patient with hypogammaglobulinemia and a reduced number of B cells.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

Next generation sequencing and functional analysis of patient urine renal progenitor-derived podocytes to unravel the diagnosis underlying refractory lupus nephritis.

Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome

Opioid response in paediatric cancer patients and the Val158Met polymorphism of the human catechol-O-methyltransferase (COMT) gene: an Italian study on 87 cancer children and a systematic review

Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.

Prevalence and prenatal ultrasound detection of clubfoot in a non-selected population: an analysis of 549, 931 births in Tuscany

RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism

Reciprocal translocations: a trap for cytogenetists?

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

Reply: Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome

Ruxolitinib is an effective treatment forCALR-positive patients with myelofibrosis

SLMSuite: a suite of algorithms for segmenting genomic profiles.

SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Somatic hypermutability of microsatellite sequences in Turcot syndrome: Implications for forensic genetics

Structure and mutation analysis of the glycogen storage disease type 1b gene.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.