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Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region

PLoS genetics, 2023-05, Vol.19 (5), p.e1010727-e1010727

2023

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Defective Sphingosine-1-phosphate metabolism is a druggable target in Huntington's disease

Scientific reports, 2017-07, Vol.7 (1), p.5280-14, Article 5280

2017

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De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's Disease

Frontiers in neuroscience, 2017-12, Vol.11, p.698-698

2017

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Molecular and functional characterization of the odorant receptor2 (OR2) in the tiger mosquito Aedes albopictus

PloS one, 2012-05, Vol.7 (5), p.e36538-e36538

2012

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Author Correction: Defective Sphingosine-1-phosphate metabolism is a druggable target in Huntington's disease

Scientific reports, 2018-05, Vol.8 (1), p.8266-1, Article 8266

2018

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Quality-based model for Life Sciences research guidelines

Accreditation and quality assurance, 2016-06, Vol.21 (3), p.221-230

2016

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Molecular and Functional Characterization of the Odorant Receptor2

PloS one, 2012-05, Vol.7 (5), p.e36538

2012

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Approaches to identify sex determining genes in the lepidopteron Maruca vitrata

Journal of insect science (Tucson, Ariz.), 2007-05, Vol.7 (29), p.12-12

2007

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Familial transposition of the great arteries caused by multiple mutations in laterality genes

Heart (British Cardiac Society), 2010-05, Vol.96 (9), p.673-677

2010

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Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

American journal of human genetics, 2006-07, Vol.79 (1), p.129-135

2006

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Human mutation, 2003-11, Vol.22 (5), p.372-377

2003

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Autologous Transplantation in Follicular Lymphoma with Early Therapy Failure: A National LymphoCare Study and Center for International Blood and Marrow Transplant Research Analysis

Biology of blood and marrow transplantation, 2018-06, Vol.24 (6), p.1163-1171

2018

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Old-growth forests in the Pollino National Park (southern Italy): current status and future perspectives

Forest@, 2023-02, Vol.20 (1), p.22-29

2023

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Cloning and functional characterization of the intersex homologous gene in the pest lepidopteron Maruca vitrata

The International journal of developmental biology, 2009, Vol.53 (7), p.1057

2009

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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.75-75, Article 75

2013

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KBG syndrome in a cohort of Italian patients

American journal of medical genetics. Part A, 2004-12, Vol.131A (2), p.144-149

2004

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Glutathione metabolism and antioxidant enzymes in children with down syndrome

The Journal of pediatrics, 2003-05, Vol.142 (5), p.583-585

2003

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Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

Birth defects research. A Clinical and molecular teratology, 2004-02, Vol.70 (2), p.95-98

2004

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ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

American journal of medical genetics, 2005-02, Vol.133A (1), p.68-70

2005

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High-level expression of Aliciclobacillus acidocaldarius thioredoxin in Pichia pastoris and Bacillus subtilis

Protein expression and purification, 2003-08, Vol.30 (2), p.179-184

2003

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Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Human mutation, 2003-12, Vol.22 (6), p.494-495

2003

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Autologous Transplantation in Follicular Lymphoma with Early Therapy Failure: A NLCS and CIBMTR Analysis

Biology of blood and marrow transplantation, 2017-12, Vol.24 (6), p.1163-1171

2017

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Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases

Pediatric pathology & molecular medicine, 2003-07, Vol.22 (4), p.323-341

2003

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Intestinal obstruction at the onset of acute lymphoblastic leukemia in a child

The American journal of pediatric hematology/oncology, 1990, Vol.12 (2), p.187

1990

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Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region

Defective Sphingosine-1-phosphate metabolism is a druggable target in Huntington's disease

De novo Synthesis of Sphingolipids Is Defective in Experimental Models of Huntington's Disease

Molecular and functional characterization of the odorant receptor2 (OR2) in the tiger mosquito Aedes albopictus

Author Correction: Defective Sphingosine-1-phosphate metabolism is a druggable target in Huntington's disease

Quality-based model for Life Sciences research guidelines

Molecular and Functional Characterization of the Odorant Receptor2

Approaches to identify sex determining genes in the lepidopteron Maruca vitrata

Reduced-Intensity Transplantation for Lymphomas Using Haploidentical Related Donors Versus HLA-Matched Sibling Donors: A Center for International Blood and Marrow Transplant Research Analysis

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Autologous Transplantation in Follicular Lymphoma with Early Therapy Failure: A National LymphoCare Study and Center for International Blood and Marrow Transplant Research Analysis

Old-growth forests in the Pollino National Park (southern Italy): current status and future perspectives

Cloning and functional characterization of the intersex homologous gene in the pest lepidopteron Maruca vitrata

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

KBG syndrome in a cohort of Italian patients

Glutathione metabolism and antioxidant enzymes in children with down syndrome

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

ZFPM2/FOG2 and HEY2 genes analysis in nonsyndromic tricuspid atresia

High-level expression of Aliciclobacillus acidocaldarius thioredoxin in Pichia pastoris and Bacillus subtilis

Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

Autologous Transplantation in Follicular Lymphoma with Early Therapy Failure: A NLCS and CIBMTR Analysis

Neoplastic disease and deletion 22q11.2: a multicentric study and report of two cases

Intestinal obstruction at the onset of acute lymphoblastic leukemia in a child

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