Publications by authors named "Anne Marie Jelsig"

17Publications

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Authors:
Andreea Manole Stephanie Efthymiou Emer O'Connor Marisa I Mendes Matthew Jennings Reza Maroofian Indran Davagnanam Kshitij Mankad Maria Rodriguez Lopez Vincenzo Salpietro Ricardo Harripaul Lauren Badalato Jagdeep Walia Christopher S Francklyn Alkyoni Athanasiou-Fragkouli Roisin Sullivan Sonal Desai Kristin Baranano Faisal Zafar Nuzhat Rana Muhammed Ilyas Alejandro Horga Majdi Kara Francesca Mattioli Alice Goldenberg Helen Griffin Amelie Piton Lindsay B Henderson Benyekhlef Kara Ayca Dilruba Aslanger Joost Raaphorst Rolph Pfundt Ruben Portier Marwan Shinawi Amelia Kirby Katherine M Christensen Lu Wang Rasim O Rosti Sohail A Paracha Muhammad T Sarwar Dagan Jenkins Jawad Ahmed Federico A Santoni Emmanuelle Ranza Justyna Iwaszkiewicz Cheryl Cytrynbaum Rosanna Weksberg Ingrid M Wentzensen Maria J Guillen Sacoto Yue Si Aida Telegrafi Marisa V Andrews Dustin Baldridge Heinz Gabriel Julia Mohr Barbara Oehl-Jaschkowitz Sylvain Debard Bruno Senger Frédéric Fischer Conny van Ravenwaaij Annemarie J M Fock Servi J C Stevens Jürg Bähler Amina Nasar John F Mantovani Adnan Manzur Anna Sarkozy Desirée E C Smith Gajja S Salomons Zubair M Ahmed Shaikh Riazuddin Saima Riazuddin Muhammad A Usmani Annette Seibt Muhammad Ansar Stylianos E Antonarakis John B Vincent Muhammad Ayub Mona Grimmel Anne Marie Jelsig Tina Duelund Hjortshøj Helena Gásdal Karstensen Marybeth Hummel Tobias B Haack Yalda Jamshidi Felix Distelmaier Rita Horvath Joseph G Gleeson Hubert Becker Jean-Louis Mandel David A Koolen Henry Houlden

Am J Hum Genet 2020 08 31;107(2):311-324. Epub 2020 Jul 31.

Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413890PMC
August 2020

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.

Fam Cancer 2020 Jun 6. Epub 2020 Jun 6.

Danish Polyposis Registry, Hvidovre Hospital, Gastrounit, Hvidovre, Denmark.

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http://dx.doi.org/10.1007/s10689-020-00191-4DOI Listing
June 2020

Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.

Eur J Med Genet 2020 May 10;63(5):103873. Epub 2020 Feb 10.

Department of Pediatrics, Center of Rare Diseases, Aarhus University Hospital and Department of Internal Medicine and Diabetes, Aarhus University Hospital, Aarhus, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.103873DOI Listing
May 2020

Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.

Eur J Med Genet 2017 Feb 16;60(2):110-113. Epub 2016 Nov 16.

Department of Clinical Genetics, Odense University Hospital, Sdr.Boulevard 29, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843366PMC
February 2017

Hamartomatous polyps - a clinical and molecular genetic study.

Dan Med J 2016 Aug;63(8)

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August 2016

Juvenile Polyps in Denmark From 1995 to 2014.

Dis Colon Rectum 2016 Aug;59(8):751-7

1 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark 2 Institute of Clinical Research, University of Southern Denmark, Odense, Denmark 3 Department of Surgery A, Odense University Hospital, Odense, Denmark.

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http://Insights.ovid.com/crossref?an=00003453-201608000-0000
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http://dx.doi.org/10.1097/DCR.0000000000000634DOI Listing
August 2016

Germline variants in Hamartomatous Polyposis Syndrome-associated genes from patients with one or few hamartomatous polyps.

Scand J Gastroenterol 2016 Sep 5;51(9):1118-25. Epub 2016 May 5.

a Department of Clinical Genetics , Odense University Hospital , Odense C , Denmark ;

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http://dx.doi.org/10.1080/00365521.2016.1174880DOI Listing
September 2016

[Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].

Ugeskr Laeger 2015 Aug;177(32):V12140755

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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August 2015

[Patients with basal cell naevus syndrome should be offered an early multidisciplinary follow-up and treatment].

Ugeskr Laeger 2015 Jul;177(29)

Dermatologisk Forskningsafdeling D92, Bispebjerg Hospital, Bispebjerg Bakke 23, 2400 København NV.

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July 2015

Research participants in NGS studies want to know about incidental findings.

Eur J Hum Genet 2015 Oct 21;23(10):1423-6. Epub 2015 Jan 21.

Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark.

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http://dx.doi.org/10.1038/ejhg.2014.298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592091PMC
October 2015

[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].

Ugeskr Laeger 2014 Oct;176(44)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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October 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

Ugeskr Laeger 2014 Oct;176(44)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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October 2014

[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].

Ugeskr Laeger 2013 Nov;175(47A)

Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C.

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November 2013

Hamartomatous polyposis syndromes: a review.

Orphanet J Rare Dis 2014 Jul 15;9:101. Epub 2014 Jul 15.

Department of Clinical Genetics, Odense University Hospital and Institute of Clinical Research, University of Southern Denmark, Sdr, Boulevard 29, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1186/1750-1172-9-101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4112971PMC
July 2014

A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth.

Eur J Med Genet 2012 Oct 30;55(10):564-7. Epub 2012 Jun 30.

Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000 Odense C, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.009DOI Listing
October 2012