List of works by Maria Grazia Pomponi

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

scientific article published on 26 May 2010

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

scientific article published on 01 August 2008

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

scientific article published in March 2009

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

scientific article published in March 2006

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

scientific article published on 28 November 2017

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

scientific article published on 01 October 2004

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

scientific article published in May 2005

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

scientific article published on 01 July 1994

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

scientific article published in June 2010

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

scientific article published in December 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.

scientific article published on 31 July 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.

scientific article published on 19 September 2006

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

scientific article published in April 2004

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

scientific article published on May 22, 1995

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.

scientific article

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.

scientific article published in January 2003

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

scientific article

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

scientific article published on 17 July 2012

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

scientific article published in December 2004

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in April 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.

scientific article published in January 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

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