Results 131 to 140 of about 1,639,589 (408)

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

Hearing impairment in Stickler syndrome: a systematic review [PDF]

, 2012
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Malfait, Fransiska   +3 more
core   +2 more sources

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Autosomal dominant polycystic kidney disease: updated perspectives

Therapeutics and Clinical Risk Management, 2019
Anjay Rastogi,1 Khalid Mohammed Ameen,1 Maha Al-Baghdadi,1 Kelly Shaffer,1 Niloofar Nobakht,1 Mohammad Kamgar,1 Edgar V Lerma21Department of Medicine, Division of Nephrology, David Geffen School of Medicine, Los Angeles, CA, USA; 2Department of Medicine,
Rastogi A, Ameen KM, Al-Baghdadi M, Shaffer K, Nobakht N, Kamgar M, Lerma EV   +6 more
doaj  

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Brain : a journal of neurology, 2015
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also ...
E. Verdura, D. Hervé, E. Scharrer, M. Amador, L. Guyant‐Maréchal, A. Philippi, A. Corlobé, F. Bergametti, S. Gazal, Carol Prieto-Morin, Nathalie Beaufort, Benoit Le Bail, Irina Viakhireva, M. Dichgans, H. Chabriat, C. Haffner, E. Tournier-Lasserve   +16 more
semanticscholar   +1 more source

An estimate of the average number of recessive lethal mutations carried by humans [PDF]

arXiv, 2014
The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and non-consanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding ...
arxiv  

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core