Ghent University Academic Bibliography

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Lukas Nollet (UGent) , Laurence Campens (UGent) , Julie De Zaeytijd (UGent) , Bart Leroy (UGent) , Dimitri Hemelsoet (UGent) , Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2022) JOURNAL OF MEDICAL GENETICS. 59(5). p.496-504

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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx (UGent) , Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(9). p.865-877

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Journal Article
A1
open access

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jerome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(6). p.559-567

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Journal Article
A1
open access

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, et al.

(2021) JOURNAL OF MEDICAL GENETICS. 58(5). p.305-313

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Journal Article
A1
open access

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Yolande van Bever, Hennie T Brüggenwirth, Katja P Wolffenbuttel, Arianne B Dessens, Irene A L Groenenberg, Maarten F C M Knapen, Elfride De Baere (UGent) , Martine Cools (UGent) , Conny M A van Ravenswaaij-Arts, Birgit Sikkema-Raddatz, et al.

(2020) JOURNAL OF MEDICAL GENETICS. 57(9). p.581-589

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SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Ellen M Hostetler, Ellen S Regalado, Dong-Chuan Guo, Nadine Hanna, Pauline Arnaud, Laura Muiño Mosquera (UGent) , Bert Callewaert (UGent) , Kwanghyuk Lee, Suzanne M Leal, Stephanie E Wallace, et al.

(2019) JOURNAL OF MEDICAL GENETICS. 56(4). p.252-260

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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

Setareh Moghadasi, Huong D Meeks, Maaike PG Vreeswijk, Linda AM Janssen, Ake Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, et al.

(2018) JOURNAL OF MEDICAL GENETICS. 55(1). p.15-20

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FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse Meerschaut (UGent) , Daniel Rochefort, Nicole Revençu, Justine Pètre, Christina Corsello, Guy A Rouleau, Fadi F Hamdan, Jacques L Michaud, Jenny Morton, Jessica Radley, et al.

(2017) JOURNAL OF MEDICAL GENETICS. 54(9). p.613-623

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Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

Delfien Bogaert (UGent) , Melissa Dullaers (UGent) , Bart Lambrecht (UGent) , Karim Vermaelen (UGent) , Elfride De Baere (UGent) and Filomeen Haerynck (UGent)

(2016) JOURNAL OF MEDICAL GENETICS. 53(9). p.575-590

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Journal Article
A1
open access

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Melissa Southey, David E Goldgar, Robert Winqvist, Katri Pylkäs, Fergus Couch, Marc Tischkowitz, William D Foulkes, Joe Dennis, Kyriaki Michailidou, Elizabeth J van Rensburg, et al.

(2016) JOURNAL OF MEDICAL GENETICS. 53(12). p.800-811

Academic Bibliography

Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

FOXP1-related intellectual disability syndrome : a recognisable entity

Genes associated with common variable immunodeficiency: one diagnosis to rule them all?

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

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