Results 101 to 110 of about 4,807 (209)

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]

, 2015
Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer), Goos, J.A.C. (Jacqueline), Hoogeboom, A.J.M. (Jeannette), Leguin, M. (Maarten), Mathijssen, I.M.J. (Irene), McGowan, S.J. (Simon J.), Merzdorf, C.S. (Christa S.), Miller, K.A. (Kerry A.), Ouweland, A.M.W. (Ans) van den, Pauws, E. (Erwin), Richardson, I.C.A. (Ivy C.A.), Spek, P.J. (Peter) van der, Swagemakers, S.M.A. (Sigrid), Twigg, S.R.F. (Stephen), Van antwerp, D. (Daniel), Wall, S.A. (Steven), Westbury, I. (Isabelle), Wilkie, A.O.M. (Andrew)   +17 more
core   +1 more source

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

Human Genome Variation
Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in ...
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito   +11 more
doaj   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). [PDF]

, 2019
BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins.
Altunoglu, U, Bakey, Z, Bauer, P, Boustany, R-M, Ercan-Sencicek, G, Gleeson, JG, Gunel, M, Hauser, N, James, KN, Kayserili, H, Maroofian, R, Miller, R, Najafi, M, Rad, A, Saeidi, K, Sahebzamani, A, Schmidts, M, Stanley, V, Wu, K, Yeşil, G, Çağlayan, AO   +20 more
core   +3 more sources

Sleep characteristics modify the association between genetic predisposition to obesity and anthropometric measurements in 119,679 UK Biobank participants [PDF]

, 2017
Background - Obesity is a multifactorial condition influenced by genetics, lifestyle and environment. Objective - To investigate whether the association between a validated genetic profile risk score for obesity (GPRS-obesity) with body mass index (BMI)
Bailey, Mark E.S., Biello, Stephany M., Celis-Morales, Carlos, Gill, Jason M.R., Guo, Yibing, Llamas, Daniel, Lyall, Donald M., Mackay, Daniel F., Pell, Jill P., Steell, Lewis, Ward, Joey   +10 more
core   +1 more source

LMX1B mutations with nails and kneecaps: a new paradigm? [PDF]

Nephrology Dialysis Transplantation, 2013
tation from older living donors. Transplantation 2013; 95: 106–113 20. Fuggle SV, Allen JE, Johnson RJ et al. Factors affecting graft and patient survival after live donor kidney transplantation in the UK. Transplantation 2010; 89: 694–701 21. Chang P, Gill J, Dong J et al.
openaire   +2 more sources

Sejtbeültetés a központi idegszövetbe: a bevitt sejtek differenciációs állapota és a befogadó szövet harmonizációja = Implantation into the central nervous system: harmonisation of the implanted cells and the host tissue [PDF]

, 2007
A posztdoktori pályázat keretében végzett munkám során kerestem azokat a tényezőket, amelyek elősegíthetik a beültetett idegi őssejtek túlélését a kifejlett agyszövetbe. Az elért eredmények: 1.
Herberth, Balázs
core  

Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]

, 2016
Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna, Bjerre, Anna, Jankauskienė, Augustina, Koczkowska, Magdalena, Lipska-Ziętkiewicz, Beata S., Schaefer, Franz   +5 more
core   +1 more source

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. [PDF]

, 2017
Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability.
Banda, Yambazi, Choquet, Hélène, Hoffmann, Thomas J, Jorgenson, Eric, Kvale, Mark N, Melles, Ronald, Nair, K Saidas, Risch, Neil, Schaefer, Catherine, Thai, Khanh K, Yin, Jie   +10 more
core   +3 more sources

Arthropathy and proteinuria: nail-patella syndrome revisited

GMS German Medical Science, 2014
[english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
doaj   +1 more source