Raoul C Hennekam
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Explore the profile of Raoul C Hennekam including associated specialties, affiliations and a list of published articles.
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131
Citations
4358
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Recent Articles
1.
Hu Y, Lauffer P, Jongejan A, Falize K, Bruinstroop E, van Trotsenburg P, et al.
Gene
. 2024 Jun;
927:148707.
PMID: 38885822
Transducin β-like 1 X-linked receptor 1 (mouse Tbl1xr1) or TBL1X/Y related 1 (human TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor signaling. Variants in TBL1XR1 cause...
2.
Kooblall K, Stevenson M, Heilig R, Stewart M, Wright B, Lockstone H, et al.
JBMR Plus
. 2024 Jun;
8(7):ziae060.
PMID: 38827116
Nuclear factor I/X () mutations are associated with 2 skeletal dysplasias, Marshall-Smith (MSS) and Malan (MAL) syndromes. encodes a transcription factor that regulates expression of genes, including Bobby sox ()...
3.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper E, Douzgou Houge S, Garcia-Minaur S, et al.
J Med Genet
. 2024 Mar;
61(6):503-519.
PMID: 38471765
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It...
4.
Hu Y, Codner G, Stewart M, la Fleur S, van Trotsenburg P, Fliers E, et al.
J Mol Endocrinol
. 2024 Feb;
73(1).
PMID: 38381448
Humans with the mutation Y509C in transducin beta like 1 X-linked (TBL1X HGNC ID HGNC:11585) have been reported to present with the combination of central congenital hypothyroidism and impaired hearing....
5.
Dawood Y, Buijtendijk M, Bohly D, Gunst Q, Docter D, Pajkrt E, et al.
Dev Cell
. 2023 Dec;
58(24):2826-2835.
PMID: 38113849
Recent studies of human embryos and fetuses have advanced our understanding not only of basic biology but also of health and disease, through a combination of detailed three-dimensional (3D) morphology...
6.
Bakhuizen J, Postema F, van Rijn R, van Schuppen J, Duijkers F, van Noesel C, et al.
J Pediatr Surg
. 2023 Nov;
59(3):459-463.
PMID: 37989646
Background: Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs,...
7.
Kooblall K, Stevenson M, Stewart M, Harris L, Zalucki O, Dewhurst H, et al.
JBMR Plus
. 2023 Jun;
7(6):e10739.
PMID: 37283649
The nuclear factor I/X () gene encodes a ubiquitously expressed transcription factor whose mutations lead to two allelic disorders characterized by developmental, skeletal, and neural abnormalities, namely, Malan syndrome (MAL)...
8.
Kantaputra P, Tripuwabhrut K, Anthonappa R, Chintakanon K, Ngamphiw C, Adisornkanj P, et al.
Diagnostics (Basel)
. 2023 Apr;
13(7).
PMID: 37046432
Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region....
9.
Schon M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, et al.
Eur J Med Genet
. 2023 Apr;
66(7):104754.
PMID: 37003575
Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical...
10.
Paul F, Ng C, Sahari U, Nafissi S, Nilipoor Y, Tavasoli A, et al.
Hum Mol Genet
. 2022 Jun;
31(21):3729-3740.
PMID: 35652444
Rabenosyn (RBSN) is a conserved endosomal protein necessary for regulating internalized cargo. Here, we present clinical, genetic, cellular and biochemical evidence that two distinct RBSN missense variants are responsible for...