Geert R Mortier
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Explore the profile of Geert R Mortier including associated specialties, affiliations and a list of published articles.
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47
Citations
1945
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Recent Articles
11.
Mortier G, Cohn D, Cormier-Daire V, Hall C, Krakow D, Mundlos S, et al.
Am J Med Genet A
. 2019 Oct;
179(12):2393-2419.
PMID: 31633310
The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also...
12.
Boudin E, de Jong T, Prickett T, Lapauw B, Toye K, Van Hoof V, et al.
Am J Hum Genet
. 2018 Jul;
103(2):288-295.
PMID: 30032985
The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand...
13.
Terhal P, Nievelstein R, Verver E, Topsakal V, van Dommelen P, Hoornaert K, et al.
Am J Med Genet A
. 2015 Jan;
167A(3):461-75.
PMID: 25604898
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never...
14.
15.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome
Schepers D, Doyle A, Oswald G, Sparks E, Myers L, Willems P, et al.
Eur J Hum Genet
. 2014 Apr;
23(2):224-8.
PMID: 24736733
Shprintzen-Goldberg syndrome (SGS) is a rare, systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations that show a significant overlap with the features observed in the Marfan (MFS)...
16.
Girisha K, Bidchol A, Kamath P, Shah K, Mortier G, Mundlos S, et al.
Am J Med Genet A
. 2014 Jan;
164A(4):898-906.
PMID: 24478176
Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of SHH. The phenotype comprises variable mesomelia, abnormalities of the thumb and...
17.
Kaiser F, Ansari M, Braunholz D, Gil-Rodriguez M, Decroos C, Wilde J, et al.
Hum Mol Genet
. 2014 Jan;
23(11):2888-900.
PMID: 24403048
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder with distinct facies, growth failure, intellectual disability, distal limb anomalies, gastrointestinal and neurological disease. Mutations in NIPBL, encoding a cohesin...
18.
Deardorff M, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, et al.
Nature
. 2012 Aug;
489(7415):313-7.
PMID: 22885700
Cornelia de Lange syndrome (CdLS) is a dominantly inherited congenital malformation disorder, caused by mutations in the cohesin-loading protein NIPBL for nearly 60% of individuals with classical CdLS, and by...
19.
Terhal P, van Dommelen P, Le Merrer M, Zankl A, Simon M, Smithson S, et al.
Am J Med Genet C Semin Med Genet
. 2012 Jul;
160C(3):205-16.
PMID: 22791362
From data collected via a large international collaborative study, we have constructed a growth chart for patients with molecularly confirmed congenital spondylo-epiphyseal dysplasia (SEDC) and other COL2A1 related dysplasias. The...
20.
Lindsay M, Schepers D, Bolar N, Doyle J, Gallo E, Fert-Bober J, et al.
Nat Genet
. 2012 Jul;
44(8):922-7.
PMID: 22772368
Loeys-Dietz syndrome (LDS) associates with a tissue signature for high transforming growth factor (TGF)-β signaling but is often caused by heterozygous mutations in genes encoding positive effectors of TGF-β signaling,...