FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

Isabelle Maystadt

Research Profile

Concepts & Ideas

Genes & Molecular Sequences

Living Beings

Infants

Anatomy

Face

Disorders

Chemicals & Drugs

Physiology

Procedures

Chromosome Mapping

Co-author Network

Publications

TOP 3
Przemyslaw Szafranski; Dick Tibboel; David P Witte; Ou Zhishuo; Susan Arbuckle; Erwin Brosens; Bo Chen; Maya Chopra; Annelies de Klein; Avinash V Dharmadhikari; Piotr Dittwald; Richard Fisher; Sixto F Guiang; Priyatansh Gurha; Russel Hirsch; Virginia A Hustead; Jose Jessurun; Katarzyna E Kolodziejska; Claire Langston; Tadeusz Majewski; Girvan Malcolm; Isabelle Maystadt; K Naga Mohan; Richard E Person; Gregory Peters; Jason Pinner; Neil Sebire; Partha Sen; Pawel Stankiewicz
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Damien Lederer; Isabelle Maystadt; Valérie Benoit; Marianne Crespin; Bruno Dallapiccola; Maria Cristina Digilio; Sophie Claire Ghariani; Bernard Grisart; Christine Verellen-Dumoulin
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of Isabelle Maystadt (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Przemyslaw Szafranski; Dick Tibboel; David P Witte; Ou Zhishuo; Susan Arbuckle; Erwin Brosens; Bo Chen; Maya Chopra; Annelies de Klein; Avinash V Dharmadhikari; Piotr Dittwald; Richard Fisher; Sixto F Guiang; Priyatansh Gurha; Russel Hirsch; Virginia A Hustead; Jose Jessurun; Katarzyna E Kolodziejska; Claire Langston; Tadeusz Majewski; Girvan Malcolm; Isabelle Maystadt; K Naga Mohan; Richard E Person; Gregory Peters; Jason Pinner; Neil Sebire; Partha Sen; Pawel Stankiewicz
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome research 2013;23(1):23-33.
2012: Alessia Indrieri; Kerstin Kutsche; Isabelle Maystadt; Manuela Morleo; Roberta Tammaro; Valeria Tiranti; Vanessa Alexandra van Rahden; Massimo Zeviani; Alex Zvulunov; Ivan Conte; Ilaria D'Amato; Stephanie Demuth; Daniela Iaconis; Brunella Franco
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
American journal of human genetics 2012;91(5):942-9.
2012: Damien Lederer; Isabelle Maystadt; Valérie Benoit; Marianne Crespin; Bruno Dallapiccola; Maria Cristina Digilio; Sophie Claire Ghariani; Bernard Grisart; Christine Verellen-Dumoulin
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.
American journal of human genetics 2012;90(1):119-24.
2011: Stephanie Moortgat; Christine Verellen-Dumoulin; Isabelle Maystadt; Benoit Parmentier; Bernard Grisart; Jean-Luc Hennecker; Anne Destree
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
European journal of medical genetics 2011;54(2):177-80.
2011: Anne Gregor; Karl Hackmann; Denise Horn; Juliane Hoyer; Jakub Klapecki; Jürgen Kohlhase; Isabelle Maystadt; Sandra Nagl; Eva Prott; Anita Rauch; André Reis; Sigrid Tinschert; Reinhard Ullmann; Eva Wohlleber; Geoffrey Woods; Beate Albrecht; Ingrid Bader; Emilia K Bijlsma; Arif B Ekici; Hartmut Engels; Christiane Zweier
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
BMC medical genetics 2011;12():106.
2010: Kristen J Champion; Monica J Basehore; Tim Wood; Anne Destrée; Pascal Vannuffel; Isabelle Maystadt
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB).
Molecular genetics and metabolism 2010;100(1):51-6.
2009: Nathalie Van der Aa; Liesbeth Rooms; Geert Vandeweyer; Jenneke van den Ende; Edwin Reyniers; Marco Fichera; Corrado Romano; Barbara Delle Chiaie; Geert R Mortier; Björn Menten; Anne Destrée; Isabelle Maystadt; Katrin Männik; Ants Kurg; Tiia Reimand; Dom McMullan; Christine Oley; Louise Brueton; Ernie M H F Bongers; Bregje W M van Bon; Rolph Pfund; Sebastien Jacquemont; Alessandra Ferrarini; Danielle Martinet; Connie Schrander-Stumpel; Alexander P A Stegmann; Suzanna G M Frints; Bert B A de Vries; Berten Ceulemans; R Frank Kooy
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
European journal of medical genetics 2009;52(2-3):94-100.
2007: Isabelle Maystadt; René Rezsöhazy; Martine Barkats; Sandra Duque; Pascal Vannuffel; Sophie Remacle; Barbara Lambert; Mustapha Najimi; Etienne Sokal; Arnold Munnich; Louis Viollet; Christine Verellen-Dumoulin
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
American journal of human genetics 2007;81(1):67-76.
2006: Isabelle Maystadt; Mohamed Zarhrate; Danièle Leclair-Richard; Brigitte Estournet; Annie Barois; Francis Renault; MC Routon; M-C Durand; Suzie Lefebvre; Arnold Munnich; Christine Verellen-Dumoulin; Louis Viollet
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.
Neurology 2006;67(1):120-4.
2004: Louis Viollet; Mohamed Zarhrate; Isabelle Maystadt; Brigitte Estournet-Mathiaut; Annie Barois; Isabelle Desguerre; Michèle Mayer; Brigitte Chabrol; Bruno Leheup; Veronica Cusin; Thierry Billette de Villemeur; Dominique Bonneau; Pascale Saugier-Veber; Anne Touzery-De Villepin; Anne Delaubier; Jocelyne Kaplan; Marc Jeanpierre; JOSUE FEINGOLD; Arnold Munnich
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families.
European journal of human genetics : EJHG 2004;12(6):483-8.
2004: Isabelle Maystadt; Mohamed Zarhrate; Pierre Landrieu; O Boespflug-Tanguy; S Sukno; P Collignon; Judith Melki; Christine Verellen-Dumoulin; Arnold Munnich; Louis Viollet
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus.
Human mutation 2004;23(5):525-6.