Raoul C Hennekam
Overview
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
11.
Matthews H, Palmer R, Baynam G, Quarrell O, Klein O, Spritz R, et al.
Sci Rep
. 2021 Jun;
11(1):12175.
PMID: 34108542
Craniofacial dysmorphism is associated with thousands of genetic and environmental disorders. Delineation of salient facial characteristics can guide clinicians towards a correct clinical diagnosis and understanding the pathogenesis of the...
12.
Aref-Eshghi E, Kerkhof J, Pedro V, France G, Barat-Houari M, Ruiz-Pallares N, et al.
Am J Hum Genet
. 2021 Jun;
108(6):1161-1163.
PMID: 34087165
No abstract available.
13.
Postema F, Matthews H, Hopman S, Merks J, Suttie M, Hoskens H, et al.
Comput Methods Programs Biomed
. 2021 Apr;
205:106093.
PMID: 33882417
Methods: Facial 3D photographic images were obtained of children with a newly diagnosed malignancy. The resulting sample comprised 13 different cancer types. Patients were excluded if they had a known...
14.
Postema F, Hopman S, de Borgie C, Aalfs C, Anninga J, Berger L, et al.
Fam Cancer
. 2021 Mar;
20(4):263-271.
PMID: 33686467
Recognizing a tumor predisposition syndrome (TPS) in a child with cancer is of clinical relevance. Earlier we developed a screening tool to increase diagnostic accuracy and clinical efficiency of identifying...
15.
Kariminejad A, Shakiba M, Shams M, Namiranian P, Eghbali M, Talebi S, et al.
Eur J Med Genet
. 2021 Jan;
64(3):104146.
PMID: 33497766
NGLY1 deficiency is a recently described autosomal recessive disorder, involved in deglycosylation of proteins, and for that reason grouped as the congenital disorders of deglycosylation together with the lysosomal storage...
16.
Postema F, Oosterwijk J, Hennekam R
Am J Med Genet A
. 2020 Nov;
185(2):324-335.
PMID: 33141500
One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is...
17.
Melis D, Carvalho D, Barbaro-Dieber T, Espay A, Gambello M, Gener B, et al.
Clin Genet
. 2020 Apr;
97(6):890-901.
PMID: 32266967
Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and...
18.
Krab L, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen J, Bisgaard A, et al.
Hum Genet
. 2020 Mar;
139(5):575-592.
PMID: 32193685
RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants...
19.
Kariminejad A, Ghaderi-Sohi S, Keshavarz E, Hashemi S, Parsimehr E, Szenker-Ravi E, et al.
Clin Genet
. 2020 Mar;
97(6):915-919.
PMID: 32112393
Variants in transcriptional activator Gli Kruppel Family Member 3 (GLI3) have been reported to be associated with several phenotypes including Greig cephalopolysyndactyly syndrome (MIM #175700), Pallister-Hall syndrome (PHS) (MIM #146510),...
20.
Aref-Eshghi E, Kerkhof J, Pedro V, Barat-Houari M, Ruiz-Pallares N, Andrau J, et al.
Am J Hum Genet
. 2020 Feb;
106(3):356-370.
PMID: 32109418
Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been...