Publications by authors named "Jenneke Van den Ende"

38Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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January 2020

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma.

Fam Cancer 2018 10;17(4):569-576

Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Prins Boudewijnlaan 43, 2650, Antwerp, Belgium.

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October 2018

Auditory neuropathy spectrum disorder (ANSD) in referrals from neonatal hearing screening at a well-baby clinic.

Eur J Pediatr 2016 Jul 24;175(7):993-1000. Epub 2016 May 24.

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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July 2016

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Am J Med Genet A 2016 06 20;170(6):1479-84. Epub 2016 Mar 20.

Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium.

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June 2016

Negative mutation screening of the NOG, BMPR1B, GDF5, and FGF9 genes indicates further genetic heterogeneity of the facioaudiosymphalangism syndrome.

Clin Dysmorphol 2013 Jan;22(1):1-6

Department of Medical Genetics, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium.

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January 2013

22q11.2 microduplication syndrome with congenital aural atresia: a family report.

Otol Neurotol 2012 Jun;33(4):674-80

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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June 2012

Otitis media with effusion: an underestimated cause of hearing loss in infants.

Otol Neurotol 2011 Jul;32(5):799-804

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

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July 2011

Cytomegalovirus DNA detection in Guthrie cards: role in the diagnostic work-up of childhood hearing loss.

Otol Neurotol 2009 Oct;30(7):943-9

Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, Antwerp University, Antwerp, Belgium.

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October 2009

Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.

Neuromuscul Disord 2009 Feb 22;19(2):172-5. Epub 2009 Jan 22.

Neurogenetics group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerpen, Belgium.

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February 2009

Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates.

Pediatrics 2008 Jun;121(6):1119-26

Department of Otorhinolaryngology, Head and Neck Surgery, and Communication Disorders, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium.

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June 2008

N1303K and IVS8-5T, clinical presentation within a family with atypical cystic fibrosis.

J Cyst Fibros 2007 May 28;6(3):220-2. Epub 2006 Nov 28.

Department of Pediatrics, University Hospital of Antwerp, Antwerp 2650, Belgium.

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May 2007

Stapes ankylosis in a family with a novel NOG mutation: otologic features of the facioaudiosymphalangism syndrome.

Otol Neurotol 2005 Sep;26(5):934-40

Department of Oto-Rhino-Laryngology, University of Antwerp, Brugge, Belgium.

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September 2005