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S

S. P. Lucia

consiglio nazionale delle ricerche (cnr)

H指数:23

被引数:2,022

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Chromosomal Instability in Mouse-Induced Pluripotent Stem Cells: Insights into X and Y Aneuploidies

小鼠诱导多能干细胞中的染色体不稳定性: 对X和Y非整倍性的见解

Cytogenetic and Genome Research

IF1.3

2025-10-010

PRE

Chromosome Transplantation: Opportunities and Limitations

IF5.2

2024-04-110

OAAI

Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes

STEM CELL REPORTS

IF5.1

2021-06-0118

OAAI

Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells

IF3.6

2019-04-025

OAAI

Correction of a Recessive Genetic Defect by CRISPR-Cas9-Mediated Endogenous Repair

IF4

2018-06-014

PREAI

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2016-07-2813

OAAI

Rankl Knock-Out Mesenchymal Stromal Cells Have an Unexpected Osteogenic Differentiation Defect Which Is Improved by a RANKL-Expressing Lentiviral Vector

MOLECULAR THERAPY

IF12

2016-05-010

OAAI

A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells

SCIENTIFIC REPORTS

IF3.9

2015-07-2421

OAAI

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2014-02-1826

OAAI

SNX10 Mutations Define a Subgroup of Human Autosomal Recessive Osteopetrosis With Variable Clinical Severity

SNX10突变定义了具有可变临床严重程度的人类常染色体隐性骨硬化症亚组

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2012-12-2154

PREAI

A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2012-07-318

PRE

Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRG1 Gene in Five Osteopetrotic Patients

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2009-12-0411

OAAI

Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis

JOURNAL OF BONE AND MINERAL RESEARCH

IF5.9

2009-12-02206

OAAI

TCIRG1-dependent autosomal recessive osteopetrosis: Analysis of 100 cases and detection of a recurrent genomic deletion

IF3.6

2009-06-011

PREAI

Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA

HUMAN MOLECULAR GENETICS

IF3.2

2008-11-07104

OA

Cell Fusion Is a Physiological Process in Mouse Liver

IF15.8

2008-11-0131

OAAI

Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL

NATURE GENETICS

IF31.8

2007-07-15332

PREAI

TCIRG1-dependent recessive osteopetrosis:: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

IF3.7

2004-01-0193

OAAI

Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2002-06-1933

OAAI

Proteomic dissection of dome formation in a mammary cell line: Role of tropomyosin-5b and maspin

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2001-05-0127

OAAI