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Pasquale Piccolo

Showing results (11-20 of 37) with videos related to

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Molecular Genetics & Genomic Medicine|July 28, 2019
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defectPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, et al.
Molecular Genetics and Metabolism Reports|September 14, 2019
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular traffickingPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
Clinical Dysmorphology|February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
The Journal of Pediatrics|December 22, 2009
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1bDaniela Melis, Rosario Pivonello, Giancarlo Parenti, et al.
Human Gene Therapy Methods|August 17, 2013
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn ratsNunzia Pastore, Edoardo Nusco, Pasquale Piccolo, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationNicola Brunetti-Pierri, Maria Torrado, Maria Del Carmen Fernandez, et al.
American Journal of Physiology. Cell Physiology|March 23, 2007
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceMaria Pia Sperandeo, Patrizia Annunziata, Andrea Bozzato, et al.
Hepatology (Baltimore, Md.)|March 16, 2017
Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsinPasquale Piccolo, Patrizia Annunziata, Leandro R Soria, et al.
Pageof 4

Showing results (11-20 of 37) with videos related to

Sort By:
Pageof 4
Molecular Genetics & Genomic Medicine|July 28, 2019
Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defectPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
European Journal of Human Genetics : EJHG|January 9, 2014
SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartanPasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola Brunetti-Pierri, Ralph Lachman, Kwanghyuk Lee, et al.
Molecular Genetics and Metabolism Reports|September 14, 2019
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular traffickingPasquale Piccolo, Valeria Sabatino, Pratibha Mithbaokar, et al.
Clinical Dysmorphology|February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
The Journal of Pediatrics|December 22, 2009
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1bDaniela Melis, Rosario Pivonello, Giancarlo Parenti, et al.
Human Gene Therapy Methods|August 17, 2013
Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn ratsNunzia Pastore, Edoardo Nusco, Pasquale Piccolo, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationNicola Brunetti-Pierri, Maria Torrado, Maria Del Carmen Fernandez, et al.
American Journal of Physiology. Cell Physiology|March 23, 2007
Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceMaria Pia Sperandeo, Patrizia Annunziata, Andrea Bozzato, et al.
Hepatology (Baltimore, Md.)|March 16, 2017
Down-regulation of hepatocyte nuclear factor-4α and defective zonation in livers expressing mutant Z α1-antitrypsinPasquale Piccolo, Patrizia Annunziata, Leandro R Soria, et al.
Pageof 4