Jamel Chelly

发表

Molecular genetics and physical mapping in human Xp21

Anthony P. Monaco, Ann P. Walker, Mengfatt Ho, 1993 .

The role of doublecortin in neuronal migration and differentiation

Stephen J. Perkins, Jamel Chelly, Carolyn A. Moores, 2004 .

Human disorders of cortical development: from past to present

Jamel Chelly, Fiona Francis, C. Fallet-Bianco, 2006, The European journal of neuroscience.

A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Lin Jun, Peter Marynen, Mark T. Ross, 1999, Nature Genetics.

Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome

Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, 2009, European Journal of Human Genetics.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Renzo Guerrini, Patrick Nitschke, Elena Fontana, 2013, Nature Genetics.

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Albert David, Marie Gomot, Christian Andres, 2004, American journal of human genetics.

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American journal of human genetics.

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Thomas Bourgeron, Richard Delorme, Marion Leboyer, 2011, BMC Medical Genetics.

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Christophe Béroud, Jamel Chelly, Mireille Claustres, 2009, Human mutation.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Andrea Menegon, Flavia Valtorta, Marina Grasso, 1998, Nature Genetics.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

A shape analysis framework for neuromorphometry

Jaap van Pelt, Edson Tadeu Monteiro Manoel, Jamel Chelly, 2002, Network.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

Anthony P. Monaco, Zeynep Tümer, Jamel Chelly, 1993, Nature Genetics.

Distinct roles of doublecortin modulating the microtubule cytoskeleton

Carolyn A Moores, Jamel Chelly, Mylène Perderiset, 2006, The EMBO journal.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

The role of ARX in cortical development

John G Parnavelas, Jamel Chelly, J. Chelly, 2006, The European journal of neuroscience.

Genetics and pathophysiology of mental retardation

Jamel Chelly, Fiona Francis, J. Chelly, 2006, European Journal of Human Genetics.

Transcription of the dystrophin gene in human muscle and non-muscle tissues

Jamel Chelly, Pascal Maire, J. Kaplan, 1988, Nature.

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Jocelyn Laporte, Jean Muller, 2012, Acta Neuropathologica.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

Illegitimate transcription: Its use in the study of inherited disease

Jamel Chelly, J. Kaplan, J. Chelly, 1992, Human mutation.

Mechanism of microtubule stabilization by doublecortin.

Ronald A Milligan, Carolyn A Moores, Jamel Chelly, 2004, Molecular cell.

Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein

Adrian Danek, Anthony P. Monaco, Jamel Chelly, 1994, Cell.