Liborio Stuppia

Overview

Best Publications

• A restricted spectrum of NRAS mutations causes Noonan syndrome

  Ion C. Cirstea;Kerstin Kutsche;Radovan Dvorsky;Lothar Gremer

  354
  Citations

• Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

  Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino

  350
  Citations

• Use of the MLPA Assay in the Molecular Diagnosis of Gene Copy Number Alterations in Human Genetic Diseases

  Liborio Stuppia;Ivana Antonucci;Giandomenico Palka;Valentina Gatta

  313
  Citations

• Epigenetics and male reproduction: the consequences of paternal lifestyle on fertility, embryo development, and children lifetime health

  Liborio Stuppia;Marica Franzago;Patrizia Ballerini;Valentina Gatta

  217
  Citations

• Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques

  E. Clementini;C. Palka;I. Iezzi;L. Stuppia

  206
  Citations

• Nutrigenetics, epigenetics and gestational diabetes: consequences in mother and child

  Marica Franzago;Federica Fraticelli;Liborio Stuppia;Ester Vitacolonna

  193
  Citations

• Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)

  Valentina Gatta;Oronzo Scarciolla;Anna Rita Gaspari;Chiara Palka

  167
  Citations

• Genetics of syndromic and nonsyndromic cleft lip and palate.

  Liborio Stuppia;Mario Capogreco;Giuseppe Marzo;Daniela La Rovere

  165
  Citations

• Amniotic fluid as a rich source of mesenchymal stromal cells for transplantation therapy.

  Ivana Antonucci;Liborio Stuppia;Yuji Kaneko;Seongjin Yu

  144
  Citations

• Microdeletions in interval 6 of the Y chromosome detected by STS-PCR in 6 of 33 patients with idiopathic oligo- or azoospermia

  L. Stuppia;G. Mastroprimiano;G. Calabrese;R. Peila

  142
  Citations

• Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.

  Fabio Coppedè;Giulia Marini;Stefania Bargagna;Liborio Stuppia

  126
  Citations

• Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome

  Francesco Brancati;Francesco Brancati;Paola Fortugno;Irene Bottillo;Marc Lopez

  125
  Citations

• Wnt Signaling Behaves as a “Master Regulator” in the Osteogenic and Adipogenic Commitment of Human Amniotic Fluid Mesenchymal Stem Cells

  Iolanda D’Alimonte;Angela Lannutti;Caterina Pipino;Pamela Di Tomo

  111
  Citations

• A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11.

  L Stuppia;V Gatta;G Calabrese;P Guanciali Franchi

  109
  Citations

• C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

  Liborio Stuppia;Valentina Gatta;Anna Rita Gaspari;Ivana Antonucci

  106
  Citations

• The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in italy

  L. Stuppia;V. Gatta;O. Scarciolla;A. Colosimo

  103
  Citations

• Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification

  Oronzo Scarciolla;Liborio Stuppia;Maria Vittoria De Angelis;Stefania Murru

  94
  Citations

• Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes.

  L. Stuppia;G. Calabrese;P. G. Franchi;R. Mingarelli

  93
  Citations

• Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

  Fabio Coppedè;Francesca Migheli;Stefania Bargagna;Gabriele Siciliano

  90
  Citations

• Detection of an insertion deletion of region 8q13-q21.2 in a patient with Duane syndrome: implications for mapping and cloning a Duane gene

  G Calabrese;L Stuppia;E Morizio;P Guanciali Franchi

  86
  Citations