Publications by authors named "Pernille Mathiesen Torring"

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[Congenital hearing loss in children].
Kristianna Mey, Pernille Mathiesen Tørring, Bjarke Edholm, Emilija Meskiene, Jesper Hvass Schmidt

Ugeskr Laeger· October 2025

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Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia.
Pernille Darre Haahr, Qin Hao, Klaus Brusgaard, Martin Jakob Larsen, Bibi Lange

Eur J Hum Genet· October 2025

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Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
Michele Nicastro, Alexa M C Vermeer, Pieter G Postema, Rafik Tadros, Forrest Z Bowling

Am J Hum Genet· July 2025

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[Hereditary haemorrhagic telangeiectasia].
Kumanan Rune Nanthan, Pernille Mathiesen Tørring, Jens Kjeldsen, Anette Dam Fialla, Bibi Lange

Ugeskr Laeger· June 2025

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Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.
Ida Vogel, Lotte Andreasen, Marie Balslev-Harder, Naja Becher, Anja Ernst

Prenat Diagn· March 2025

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Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen

Fam Cancer· October 2023

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Comprehensive prenatal diagnostics: Exome versus genome sequencing.
Ieva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, Pernille Mathiesen Torring, Britta Schlott Kristiansen

Prenat Diagn· August 2023

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Distinct gastric phenotype in patients with pathogenic variants in A nationwide cross-sectional study.
Anne Marie Jelsig, Niels Qvist, Birgitte Bertelsen, Lise-Lotte Christensen, Hanne Grossjohan

Endosc Int Open· December 2022

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Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
Allan Bayat, Bjørg Krett, Morten Dunø, Pernille Mathiesen Torring, John Vissing

Am J Med Genet A· July 2022

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[Cutaneous capillary malformations with cerebral implementation].
Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Drøhse Kjeldsen, Anette Bygum, Annette Schuster

Ugeskr Laeger· May 2022

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Capillary Malformation-arteriovenous Malformation Type 2: A Case Report and Review.
Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Anette Bygum

Acta Derm Venereol· March 2022

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Prenatal cases with rare RIT1 variants causing severe fetal hydrops and death.
Ieva Miceikaite, Geske Sidsel Bak, Martin Jakob Larsen, Britta Schlott Kristiansen, Pernille Mathiesen Torring

Clin Case Rep· July 2021

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[Screening for cerebral arteriovenous malformations in patients with hereditary haemorrhagic telangiectasia].
Simon Kjær Simonsen, Troels Halfeld Nielsen, Rikke Beese Dalby, Annette Dam Fialla, Bibi Lange

Ugeskr Laeger· May 2021

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DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich

Genet Med· January 2021

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Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
Eliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, Jessica Tardif, Klaus Dieterich

Genet Med· January 2021

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A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.
Rasmus Ree, Anni Sofie Geithus, Pernille Mathiesen Tørring, Kristina Pilekær Sørensen, Mads Damkjær

BMC Med Genet· June 2019

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[Glomuvenous malformations].
Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Shailajah Kamaleswaran, Anette Drøhse Kjeldsen, Mette Wanscher Kjærskov

Ugeskr Laeger· April 2019

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Is MED13L-related intellectual disability a recognizable syndrome?
Pernille Mathiesen Tørring, Martin Jakob Larsen, Charlotte Brasch-Andersen, Lotte Nylandsted Krogh, Maria Kibæk

Eur J Med Genet· February 2019

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[Glomuvenous malformations can be very painful and cause diagnostic challenges].
Anna Trier Heiberg Brix, Pernille Mathiesen Tørring, Shailajah Kamaleswaran, Dorte Gad, Anette Bygum

Ugeskr Laeger· February 2019

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Comorbidity among HHT patients and their controls in a 20 years follow-up period.
Katrine Saldern Aagaard, Anette Drøhse Kjeldsen, Pernille Mathiesen Tørring, Anders Green

Orphanet J Rare Dis· December 2018

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Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia.
Pernille Mathiesen Tørring, Mathilde Faurholdt Lauridsen, Christine I Dali, Poul Erik Andersen, Lillian Bomme Ousager

Clin Case Rep· June 2017

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20-year follow-up study of Danish HHT patients-survival and causes of death.
Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green

Orphanet J Rare Dis· November 2016

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[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].
Anne Marie Jelsig, Pernille Mathiesen Tørring, Niels Qvist, Inge Bernstein, Lilian Bomme Ousager

Ugeskr Laeger· October 2014

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[Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].
Anne Marie Jelsig, Pernille Mathiesen Tørring, Friedrik Wikman, Michael Bau Mortensen, Niels Qvist

Ugeskr Laeger· October 2014

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[Juvenile polyposis syndrome is a rare cause of gastrointestinal cancer].
Anne Marie Jelsig, Pernille Mathiesen Tørring, Niels Qvist, Inge Bernstein, Lilian Bomme Ousager

Ugeskr Laeger· November 2013

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