C. Schanen

发表

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain

M. Nakao, S. Kudo, N. Fujita, 2003, Journal of medical genetics.

A survey of seizures and current treatments in 15q duplication syndrome

S. Spence, E. Cook, O. Devinsky, 2014, Epilepsia.

The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006 .

The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome.

S. Kudo, N. Dorrani, C. Schanen, 2002, Mental retardation and developmental disabilities research reviews.

Variable phenotypic expression of a MECP2 mutation in a family

A. Percy, J. Lane, C. Schanen, 2009, Journal of Neurodevelopmental Disorders.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Phosphorylation of MeCP2 at Serine 80 regulates its chromatin association and neurological function

R. Jaenisch, K. Martinowich, R. Klose, 2009, Proceedings of the National Academy of Sciences.

H. Ochs, E. Stiehm, D. Rawlings, 2001, The Journal of pediatrics.

Neural, not gonadal, origin of brain sex differences in a gynandromorphic finch

A. Arnold, J. Wingfield, A. Palotie, 2003, Proceedings of the National Academy of Sciences of the United States of America.

Functional analysis of a recurrent missense mutation in Notch3 in CADASIL

D. St. Clair, G. Weinmaster, T. Haritunians, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.

Rett syndrome: a surprising result of mutation in MECP2.

J Dragich, I Houwink-Manville, C Schanen, 2000, Human molecular genetics.

CADASIL Notch3 Mutant Proteins Localize to the Cell Surface and Bind Ligand

J. Boulter, G. Weinmaster, T. Haritunians, 2002, Circulation research.

Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndrome

R. Cantor, N. Dorrani, A. Percy, 2004, American journal of medical genetics. Part A.

Guidelines for reporting clinical features in cases with MECP2 mutations

Masaya Segawa, Yushiro Yamashita, Uta Francke, 2001, Brain and Development.

A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.

U. Francke, C. Schanen, 1998, American journal of human genetics.

Occurrence of Rett Syndrome in Boys

H. Leonard, C. Ellaway, R. Falk, 2001, Journal of child neurology.

Mortality in isodicentric chromosome 15 syndrome: The role of SUDEP

E. Cook, D. Friedman, O. Devinsky, 2016, Epilepsy & Behavior.

Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems

M. Nakao, S. Kudo, N. Fujita, 2001, Brain and Development.

Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation

M. Nakao, S. Kudo, N. Fujita, 2002, Journal of medical genetics.

Rethinking the fate of males with mutations in the gene that causes Rett syndrome

C. Schanen, 2001, Brain and Development.

The genetic basis of Rett syndrome: candidate gene considerations.

L. Dure, A. Percy, C. Schanen, 1998, Molecular genetics and metabolism.

Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.

V. P. Johnson, M. Bull, G. Tint, 1997, American journal of medical genetics.

Impact of an educational intervention on breastfeeding on the knowledge of pharmacists and pharmacy technicians

V. Pierrat, P. Truffert, C. Schanen, 2017 .

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

O. Rascol, R. Winter, P. Calvas, 2002, Journal of medical genetics.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome

A. Percy, J. Lane, P. Macleod, 2013, American journal of medical genetics. Part A.