Geert R Mortier
Overview
Explore the profile of Geert R Mortier including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
47
Citations
1945
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Unger S, Ferreira C, Mortier G, Ali H, Bertola D, Calder A, et al.
Am J Med Genet A
. 2023 Feb;
191(5):1164-1209.
PMID: 36779427
The "Nosology of genetic skeletal disorders" has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in molecular delineation of new disorders thanks to...
2.
Hendrickx G, Boudin E, Steenackers E, Collet C, Mortier G, Genevieve D, et al.
Bone
. 2022 Nov;
167:116633.
PMID: 36436818
No abstract available.
3.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schutz L, et al.
J Med Genet
. 2022 Oct;
60(5):498-504.
PMID: 36241386
Background: Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia with significant clinical variability. Patients with CCD typically present with delayed closure of fontanels and cranial sutures, dental anomalies, clavicular hypoplasia...
4.
Girisha K, Jacob P, Bhavani G, Shah H, Mortier G
Eur J Med Genet
. 2022 May;
65(6):104521.
PMID: 35568358
Steel syndrome (MIM# 615155) is an autosomal recessive skeletal disorder, characterized by dislocations of the hips and radial heads, carpal coalition, short stature, facial dysmorphism, and scoliosis. Until date 47...
5.
Holling T, Bhavani G, von Elsner L, Shah H, Kausthubham N, Bhattacharyya S, et al.
Hum Mutat
. 2022 Mar;
43(5):625-642.
PMID: 35266227
BNIP1 (BCL2 interacting protein 1) is a soluble N-ethylmaleimide-sensitive factor-attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients...
6.
Savarirayan R, Ireland P, Irving M, Thompson D, Alves I, Baratela W, et al.
Nat Rev Endocrinol
. 2021 Nov;
18(3):173-189.
PMID: 34837063
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation...
7.
Laurent M, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, et al.
Front Endocrinol (Lausanne)
. 2021 Jun;
12:686401.
PMID: 34113319
[This corrects the article DOI: 10.3389/fendo.2021.641543.].
8.
Laurent M, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, et al.
Front Endocrinol (Lausanne)
. 2021 Apr;
12:641543.
PMID: 33815294
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the gene lead to elevated levels of the hormone fibroblast growth...
9.
Van de Voorde N, Mortier G, Vanhoenacker F
Semin Musculoskelet Radiol
. 2020 Oct;
24(5):570-578.
PMID: 33036044
Imaging studies of the brain, head and neck, sinuses, and dental computed tomography are among the most frequently performed procedures in radiologic departments. Systematic evaluation in the bone window may...
10.
Girisha K, Bhavani G, Shah H, Moirangthem A, Shukla A, Kim O, et al.
Am J Med Genet A
. 2019 Nov;
182(2):338-347.
PMID: 31755234
The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports...