Lionel Van Maldergem

Lionel Van Maldergem

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Lionel Van Maldergem

Lionel Van Maldergem

Publications by authors named "Lionel Van Maldergem"

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Clin Genet 2019 Oct 18;96(4):317-329. Epub 2019 Jul 18.

APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, Paris, France.

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http://dx.doi.org/10.1111/cge.13594DOI Listing
October 2019

Autopsy findings of ectodermal dysplasia and sex development disorder in a fetus with 19q12q13 microdeletion.

Eur J Med Genet 2019 Sep 18;62(9):103539. Epub 2018 Sep 18.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183005
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http://dx.doi.org/10.1016/j.ejmg.2018.09.006DOI Listing
September 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.

Pediatr Transplant 2018 05 16;22(3):e13112. Epub 2018 Feb 16.

Service de Gastro-Entérologie et Hépatologie Pédiatrique, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1111/petr.13112DOI Listing
May 2018

A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.

Front Neurol 2017 3;8:71. Epub 2017 Mar 3.

Unité d'Etude du Mouvement-GRIM, FNRS, ULB-Erasme, Bruxelles, Belgium; Service des Neurosciences, UMons, Mons, Belgium.

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http://dx.doi.org/10.3389/fneur.2017.00071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5334604PMC
March 2017

Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.

Am J Med Genet A 2016 10 5;170(10):2662-70. Epub 2016 Jun 5.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

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http://dx.doi.org/10.1002/ajmg.a.37778DOI Listing
October 2016

TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Am J Med Genet A 2015 Aug 13;167A(8):1897-901. Epub 2015 Apr 13.

Centre de génétique humaine, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1002/ajmg.a.37083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654244PMC
August 2015

Berardinelli-Seip syndrome and achalasia: a shared pathomechanism?

Eur J Pediatr 2015 Jul 22;174(7):975-80. Epub 2015 May 22.

Department of Pediatric Gastroenterology and Nutrition, Emma Children's Hospital AMC, Amsterdam, The Netherlands,

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http://dx.doi.org/10.1007/s00431-015-2556-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4475245PMC
July 2015

Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.

Am J Med Genet A 2014 Oct 26;164A(10):2618-22. Epub 2014 Jun 26.

Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.

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http://doi.wiley.com/10.1002/ajmg.a.36662
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http://dx.doi.org/10.1002/ajmg.a.36662DOI Listing
October 2014

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: report of three affected patients.

Am J Med Genet A 2014 May 29;164A(5):1245-53. Epub 2014 Jan 29.

National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland; Bahrain Defence Forces Hospital, Department of Paediatric Cardiology, Riffa, Kingdom of Bahrain.

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http://dx.doi.org/10.1002/ajmg.a.36411DOI Listing
May 2014

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

Eur J Med Genet 2014 Apr 6;57(5):230-4. Epub 2014 Mar 6.

Department of Medical Genetics, CHU and University of Liège, Liège, Belgium; Pediatric Department, Clinique de l'Espérance, Liège, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.012DOI Listing
April 2014

Hearing loss and deafness in the pediatric population: causes, diagnosis, and rehabilitation.

Handb Clin Neurol 2013 ;113:1527-38

Auditory Neurophysiology Laboratory, Department of Neurology and Rehabilitation, Université Libre de Bruxelles, Brugmann Hospital, Brussels, Belgium. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00023-XDOI Listing
March 2014

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.

Mol Genet Metab 2013 Jun 23;109(2):227-9. Epub 2013 Apr 23.

Metabolic Unit, Department of Medical Genetics, CHU and University de Liège, Domaine Sart-Tilman Bât B35, B-4000 Liège, Belgium.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.011DOI Listing
June 2013

Association of iniencephaly, anencephaly, and fusion of cervical vertebral bodies: a new autosomal recessive syndrome?

Clin Dysmorphol 2013 Jan;22(1):29-32

SOC Pediatria, Ospedale Castelli, Verbania, ASL VCO Regione Piemonte, Italy.

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http://dx.doi.org/10.1097/MCD.0b013e3283590b04DOI Listing
January 2013

Coronal craniosynostosis and radial ray hypoplasia: a third report of Twist mutation in a 33 weeks fetus with diaphragmatic hernia.

Eur J Med Genet 2012 Dec 24;55(12):719-22. Epub 2012 Aug 24.

Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.08.007DOI Listing
December 2012

Temple-Baraitser syndrome: a rare and possibly unrecognized condition.

Am J Med Genet A 2010 Sep;152A(9):2322-6

Center for Human Genetics, CHU & University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.33574DOI Listing
September 2010

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation.

Gene Expr Patterns 2009 Sep 11;9(6):423-9. Epub 2009 Jun 11.

INSERM, U910, Faculté de Médecine de La Timone, Marseille, France.

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http://dx.doi.org/10.1016/j.gep.2009.06.001DOI Listing
September 2009

Moyamoya syndrome as a risk factor for stroke in Saudi children. Novel and usual associations.

Saudi Med J 2006 Mar;27 Suppl 1:S69-80

Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, PO Box 2925, Riyadh 11461, Kingdom of Saudi Arabia.

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March 2006

Coenzyme Q-responsive Leigh's encephalopathy in two sisters.

Ann Neurol 2002 Dec;52(6):750-4

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium.

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http://dx.doi.org/10.1002/ana.10371DOI Listing
December 2002