Results 71 to 80 of about 15,172 (214)

Long‐Term Outcomes of Deep Brain Stimulation in Woodhouse–Sakati Syndrome

Movement Disorders, EarlyView.
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive disease with distinctive neuroendocrine manifestations, with dystonia being the most common. No clear guidelines are available for the treatment of dystonia in WSS. Objective The aim was to analyze the impact of deep brain stimulation (DBS) on WSS‐associated dystonia ...
Hend Alhodaif, Yara Alkhodair, Faisal Alotaibi, Salma Alqahtani, Saeed Bohlega, Amaal Aldakheel   +5 more
wiley   +1 more source

Acrodermatitis continua of Hallopeau: clinical perspectives. [PDF]

, 2019
Acrodermatitis continua of Hallopeau (ACH) is a rare, sterile pustular eruption of one or more digits. The condition presents with tender pustules and underlying erythema on the tip of a digit, more frequently arising on a finger than a toe.
Beck, Kristen M, Bhutani, Tina, Liao, Wilson, Ly, Karen, Smith, Mary Patricia, Thibodeaux, Quinn   +5 more
core  

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

Clinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib, Thomas Rio‐Frio, Michel Guipponi, Thierry Nouspikel, Siv Fokstuen, Marc Abramowicz, Philippe Khau Van Kien   +6 more
wiley   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Role of FGFs in the control of programmed cell death during limb development [PDF]

, 2001
10 páginas, 8 figuras.We have investigated the role of FGFs in the control of programmed cell death during limb development by analyzing the effects of increasing and blocking FGF signaling in the avian limb bud.
Montero, Juan Antonio, Gañán, Yolanda, Macías, D., Rodríguez-León, Joaquín, Sanz-Ezquerro, Juan José, Merino, Ramón, Chimal-Monroy, Jesús, Nieto, M. Ángela, Hurle, Juan M.   +8 more
core   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

Oculodentodigital dysplasia

Indian Journal of Ophthalmology, 2016
Oculodentodigital dysplasia is a rare, autosomal dominant disorder with high penetrance and variable expressivity, caused by mutations in the connexin 43 or gap junction protein alpha-1 gene.
Dharmil C Doshi, Purvi K Limdi, Nilesh V Parekh, Neepa R Gohil   +3 more
doaj   +1 more source

Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. [PDF]

, 2014
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital ...
Balasubramanian, M., Biesecker, L.G., Blumhorst, C., Braverman, N., Brennan, L.M., Chandler, K.E., Clark, R., Crow, Y.J., Cunningham, M.L., Darling, T., Fraser, J.L., Geer, J., Graham, J.M., Grant, I., Gucev, Z., Henderson, A., Huson, S.M., Jakkula, E., Keppler-Noreuil, K.M., Krishnamurty, V., Lindhurst, M.J., Parker, V.E., Pena, L.D., Sapp, J.C., Sellars, E.A., Semple, R.K., Shuen, A., Sutton, V.R., Tasic, V., Tosi, L.L., Whitehouse, R.W.   +30 more
core   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source