Patrick J Willems
Overview
Explore the profile of Patrick J Willems including associated specialties, affiliations and a list of published articles.
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36
Citations
1356
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Recent Articles
1.
Chen Y, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous A, Strom T, et al.
Nat Genet
. 2015 Jul;
47(8):962.
PMID: 26220135
No abstract available.
2.
Chen Y, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous A, Strom T, et al.
Nat Genet
. 2015 May;
47(7):803-8.
PMID: 26005867
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major...
3.
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)...
4.
Al-Shibli A, Yusuf M, Abounajab I, Willems P
Springerplus
. 2014 Apr;
3:96.
PMID: 24711981
Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3...
5.
Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A
Ben-Salem S, Rehm H, Willems P, Tamimi Z, Ayadi H, Ali B, et al.
Mol Biol Rep
. 2013 Nov;
41(1):193-200.
PMID: 24194196
Variants in the head and tail domains of the MYO7A gene, encoding myosin VIIA, cause Usher syndrome type 1B (USH1B) and nonsyndromic deafness (DFNB2, DFNA11). In order to identify the...
6.
Speksnijder L, Cohen-Overbeek T, Knapen M, Lunshof S, Hoogeboom A, van den Ouwenland A, et al.
Am J Med Genet A
. 2013 May;
161A(6):1394-400.
PMID: 23633388
Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the KIF7 gene...
7.
Verhagen J, Diderich K, Oudesluijs G, Mancini G, Eggink A, Verkleij-Hagoort A, et al.
Am J Med Genet A
. 2012 Aug;
158A(10):2412-20.
PMID: 22893440
Interstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. The TBX1 gene is considered to be the major candidate gene for the main features in...
8.
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...
9.
van de Laar I, van der Linde D, Oei E, Bos P, Bessems J, Bierma-Zeinstra S, et al.
J Med Genet
. 2011 Dec;
49(1):47-57.
PMID: 22167769
Background: Aneurysms-osteoarthritis syndrome (AOS) is a new autosomal dominant syndromic form of thoracic aortic aneurysms and dissections characterised by the presence of arterial aneurysms and tortuosity, mild craniofacial, skeletal and...
10.
Simsek E, Simsek T, Dallar Y, Can O, Willems P
J Clin Res Pediatr Endocrinol
. 2011 Mar;
3(1):29-31.
PMID: 21448331
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations...