Lista de obras - Maria Grazia Pomponi - Dominio Público Uruguay

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

artículo científico publicado en 2010

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

artículo científico publicado en 2008

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

artículo científico publicado en 2009

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

artículo científico publicado en 2006

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis

artículo científico publicado en 2017

Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome

artículo científico publicado en 2004

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

artículo científico publicado en 2005

Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro

artículo científico publicado en 1994

Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.

artículo científico publicado en 2010

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

artículo científico publicado en 2004

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Correlation between GJB2 mutations and audiological deficits: personal experience.

artículo científico publicado en 2008

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

scientific article published on 13 March 2018

Evidence of white matter involvement in SCA 7.

artículo científico publicado en 2006

Expansion to full mutation of a FMR1 intermediate allele over two generations

artículo científico publicado en 2004

Further contribution to the description of phenotypes associated with partial 4q duplication ⬇️

artículo científico publicado el 22 de mayo de 1995

In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome ⬇️

artículo científico publicado el 1 de enero de 1998

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

scientific article published on 01 October 2019

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

artículo científico publicado en 2012

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

article published in 1999

Nonhomologous Robertsonian translocations(NHRTs) and uniparental disomy(UPD) risk: an Italian multicentric prenatal survey

article

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

artículo científico publicado en 2003

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

artículo científico publicado en 2016

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

artículo científico publicado en 2012

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

artículo científico publicado en 2004

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

artículo científico publicado en 1993

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

artículo científico publicado en 1999

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

artículo científico publicado en 2010

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

artículo científico publicado en 2017

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

artículo científico publicado en 1997

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

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother

scientific article published on 01 February 2010

Lista de obras de Maria Grazia Pomponi

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

A new single-nucleotide deletion of PMP22 in an HNPP family without recurrent palsies

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family.

ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis

Assisted reproductive technology and congenital overgrowth: some speculations on a case of Pallister-Killian syndrome

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Butyrate and acetyl-carnitine inhibit the cytogenetic expression of the fragile X in vitro

Cardio-facio-cutaneous syndrome: phenotypic variability and differential diagnosis in 3 cases with de novo BRAF mutations.

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Correlation between GJB2 mutations and audiological deficits: personal experience.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

Evidence of white matter involvement in SCA 7.

Expansion to full mutation of a FMR1 intermediate allele over two generations

Further contribution to the description of phenotypes associated with partial 4q duplication ⬇️

In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome ⬇️

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution and uniparental disomy studies

Nonhomologous Robertsonian translocations(NHRTs) and uniparental disomy(UPD) risk: an Italian multicentric prenatal survey

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1.

Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene.

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

The chromosome analysis of the miscarriage tissue. Miscarried embryo/fetal crown rump length (CRL) measurement: A practical use.

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

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

Unexpected finding of a paternal premutation of the fragile X FMR1 gene in a female fetus of a premutation carrier mother