Raoul C Hennekam
Overview
Explore the profile of Raoul C Hennekam 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
131
Citations
4358
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
21.
Zenker M, Bunt J, Schanze I, Schanze D, Piper M, Priolo M, et al.
Am J Med Genet C Semin Med Genet
. 2019 Nov;
181(4):611-626.
PMID: 31730271
The nuclear factor one (NFI) site-specific DNA-binding proteins represent a family of transcription factors that are important for the development of multiple organ systems, including the brain. During brain development...
22.
de La Dure-Molla M, Fournier B, Manzanares M, Acevedo A, Hennekam R, Friedlander L, et al.
Am J Med Genet A
. 2019 Aug;
179(10):1913-1981.
PMID: 31468724
Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose...
23.
Huisman S, Wiedijk B, Van Eeghen A, Hennekam R, van Trotsenburg A
J Pediatr Endocrinol Metab
. 2019 Jul;
32(8):903-905.
PMID: 31280236
No abstract available.
24.
Frints S, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman H, et al.
Hum Mutat
. 2019 Jun;
40(12):2270-2285.
PMID: 31206972
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement....
25.
Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan A, Youssefian L, Parsimehr E, et al.
Am J Med Genet A
. 2019 Jun;
179(8):1547-1555.
PMID: 31184804
Aplasia cutis congenita (ACC) is a heterogeneous group of disorders characterized by localized or widespread absence of skin. ACC can occur isolated or as part of a syndrome. Here we...
26.
Postema F, Bliek J, van Noesel C, van Zutven L, Oosterwijk J, Hopman S, et al.
Pediatr Blood Cancer
. 2019 Mar;
66(6):e27715.
PMID: 30882989
Mosaic genome-wide paternal uniparental disomy is an infrequently described disorder in which affected individuals have signs and symptoms that may resemble Beckwith-Wiedemann syndrome. In addition, they can develop multiple benign...
27.
Angius A, Uva P, Oppo M, Persico I, Onano S, Olla S, et al.
Am J Med Genet A
. 2019 Feb;
179(4):634-638.
PMID: 30737887
We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability...
28.
Zollino M, Zweier C, Van Balkom I, Sweetser D, Alaimo J, Bijlsma E, et al.
Clin Genet
. 2019 Jan;
95(4):462-478.
PMID: 30677142
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It...
29.
Aref-Eshghi E, Bend E, Hood R, Schenkel L, Carere D, Chakrabarti R, et al.
Nat Commun
. 2018 Nov;
9(1):4885.
PMID: 30459321
Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in...
30.
Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos C, Carrero D, et al.
J Med Genet
. 2018 Oct;
55(12):837-846.
PMID: 30323018
Background: Wiedemann-Rautenstrauch syndrome (WRS) is a form of segmental progeria presenting neonatally, characterised by growth retardation, sparse scalp hair, generalised lipodystrophy with characteristic local fatty tissue accumulations and unusual face....