Lista de obras - Margherita Cirillo Silengo

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

article

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

artículo científico publicado en 2013

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

artículo científico publicado en 2012

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 new syndrome with ocular, skeletal and renal involvement

artículo científico publicado en 1987

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

artículo científico publicado en 2009

A restricted spectrum of NRAS mutations causes Noonan syndrome

artículo científico publicado en 2010

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

artículo científico publicado en 2009

Clinical and molecular characterization of 40 patients with Noonan syndrome.

artículo científico publicado en 2008

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

artículo científico publicado en 2011

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

artículo científico publicado en 2008

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia

artículo científico publicado en 1992

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

artículo científico publicado en 1999

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

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

artículo científico publicado en 2007

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

artículo científico publicado en 1999

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.

artículo científico publicado en 2008

Ectodermal abnormalities in Kabuki syndrome

artículo científico publicado en 1997

Ectodermal dysplasias: not only 'skin' deep

artículo científico publicado en 2000

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

scientific article published on 01 January 1982

Eyebrow anomalies as a diagnostic sign of genomic disorders

artículo científico publicado en 2010

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

artículo científico publicado en 2007

Fontaine-farriaux craniosynostosis: Second report in the literature

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.

artículo científico publicado en 2008

Frequency of RET mutations in long- and short-segment Hirschsprung disease

artículo científico publicado en 1997

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

artículo científico publicado en 2009

Goldenhar anomaly in one of triplets derived from in vitro fertilization

artículo científico publicado en 1999

Hair anomalies as a sign of mitochondrial disease ⬇️

artículo científico publicado el 24 de abril de 2003

Hair as a diagnostic tool in dysmorphology

artículo científico publicado en 2002

How wide is the ocular spectrum of Delleman syndrome?

scientific article published on 01 January 2004

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

scientific article published on 04 March 2008

Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor

scientific article published on 27 February 2009

Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

artículo científico publicado en 1999

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

artículo científico publicado en 2001

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

artículo científico publicado en 2006

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

artículo científico publicado en 2002

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

artículo científico publicado en 2004

Monosomy 20 in childhood acute lymphoblastic leukemia

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

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

artículo científico publicado en 2005

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

artículo científico publicado en 2011

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

artículo científico publicado en 2004

Myhre's syndrome in a girl with normal intelligence

artículo científico publicado en 2005

NKX2.5/NKX2.6 Mutations Are Not a Common Cause of Isolated Type 1 Truncus Arteriosus in a Small Cohort of Multiethnic Cases

scientific article published on 01 December 2008

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

artículo científico publicado en 2011

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

artículo científico

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

artículo científico publicado en 2002

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

artículo científico publicado en 2006

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

Prenatal features of Noonan syndrome: prevalence and prognostic value

artículo científico publicado en 2011

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

artículo científico publicado en 2007

Progressive extreme heterotopic calcification

artículo científico publicado en 2013

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

article

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

artículo científico publicado en 2011

Remittent hyperammonemia in congenital portosystemic shunt.

artículo científico publicado en 2009

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

artículo científico publicado en 2011

Schinzel-Giedion Syndrome With Sacrococcygeal Teratoma

scientific article published on 01 July 2003

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

artículo científico publicado en 1999

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

artículo científico publicado en 2010

Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor

article

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

artículo científico publicado en 2009

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

artículo científico publicado en 2011

The overlap between Sotos and Beckwith-Wiedemann syndromes

artículo científico publicado en 2010

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

artículo científico publicado en 2012

Truncus arteriosus and isochromosome 8q

scientific article published on 01 March 2005

Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings

scientific article published on 01 November 1993

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

artículo científico publicado en 2016

Lista de obras de Margherita Cirillo Silengo

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

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 new syndrome with ocular, skeletal and renal involvement

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.

A restricted spectrum of NRAS mutations causes Noonan syndrome

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

Congenital diaphragmatic hernia associated with ipsilateral upper limb reduction defects: Report of a case with thumb hypoplasia

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

Congenital hypoplastic anaemia in a patient with a new multiple congenital anomalies-mental retardation syndrome

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

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer.

Ectodermal abnormalities in Kabuki syndrome

Ectodermal dysplasias: not only 'skin' deep

Expanding CEP290 mutational spectrum in ciliopathies

Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

Eyebrow anomalies as a diagnostic sign of genomic disorders

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

Fontaine-farriaux craniosynostosis: Second report in the literature

Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.

Frequency of RET mutations in long- and short-segment Hirschsprung disease

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Goldenhar anomaly in one of triplets derived from in vitro fertilization

Hair anomalies as a sign of mitochondrial disease ⬇️

Hair as a diagnostic tool in dysmorphology

How wide is the ocular spectrum of Delleman syndrome?

In vivo specific reduction of arylsulfatase B enzymatic activity in children with cystic fibrosis

Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor

Is there a relationship between extensive mongolian spots and inborn errors of metabolism?

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

Mental retardation, peculiar facial dysmorphism and HbH inclusions in a 4-year-old boy.

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Monosomy 20 in childhood acute lymphoblastic leukemia

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

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

Myhre's syndrome in a girl with normal intelligence

NKX2.5/NKX2.6 Mutations Are Not a Common Cause of Isolated Type 1 Truncus Arteriosus in a Small Cohort of Multiethnic Cases

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

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

Prenatal features of Noonan syndrome: prevalence and prognostic value

Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.

Progressive extreme heterotopic calcification

R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Remittent hyperammonemia in congenital portosystemic shunt.

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

Schinzel-Giedion Syndrome With Sacrococcygeal Teratoma

Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Startle disease in an Italian family by mutation (K276E): The α-subunit of the inhibiting glycine receptor

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability.

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

The overlap between Sotos and Beckwith-Wiedemann syndromes

The phenotype of recurrent 10q22q23 deletions and duplications

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Truncus arteriosus and isochromosome 8q

Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.