Results 81 to 90 of about 1,104 (159)

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
Alström syndrome is a very rare genetic disorder that needs a high suspicion index in any patient with cardiomyopathy, obesity, and diminution of vision and hearing. Molecular genetic testing of the ALMS1 gene uncovered a novel homozygous mutation (c.2729C>G) in an extended Saudi Family.
Salma A. S. Abosabie, Sara A. Abosabie, Jaber Alfaifi, Youssef A. Alqahtani, Ayed A. Shati, Najmah A. Alotaibi, Ohoud A. Alghamdi, Ghadi N. Alotaibi, Abdulrahman A. Baabdullah, Lama K. Kabrah, Naglaa M. Kamal, Mohammed A. M. Oshi, Enas A. A. Abdallah   +12 more
wiley   +1 more source

Genetic testing for cone rod dystrophies

The EuroBiotech Journal, 2017
We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for cone rod dystrophies (CORDs).
Abeshi Andi, Zulian Alessandra, Beccari Tommaso, Dundar Munis, Ziccardi Lucia, Bertelli Matteo   +5 more
doaj   +1 more source

A study of candidate genes for day blindness in the standard wire haired dachshund

BMC Veterinary Research, 2008
Background A genetic study was performed to identify candidate genes associated with day blindness in the standard wire haired dachshund. Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were ...
Lingaas Frode, Bjerkås Ellen, Ropstad Ernst-Otto, Wiik Anne   +3 more
doaj   +1 more source

Dysfunction of outer segment guanylate cyclase caused by retinal disease related mutations

Frontiers in Molecular Neuroscience, 2014
Membrane bound guanylate cyclases are expressed in rod and cone cells of the vertebrate retina and mutations in several domains of rod outer segment guanylate cyclase 1 (ROS-GC1 encoded by the gene GUCY2D) correlate with different forms of retinal ...
Patrick eZägel, Karl-Wilhelm eKoch
doaj   +1 more source

Degeneration of the olfactory guanylyl cyclase D gene during primate evolution.

PLoS ONE, 2007
BackgroundThe mammalian olfactory system consists of several subsystems that detect specific sets of chemical cues and underlie a variety of behavioral responses.
Janet M Young, Hang Waters, Cora Dong, Hans-Jürgen Fülle, Emily R Liman   +4 more
doaj   +1 more source

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

PLoS ONE, 2014
Most diagnostic laboratories are confronted with the increasing demand for molecular diagnosis from patients and families and the ever-increasing genetic heterogeneity of visual disorders.
Marta de Castro-Miró, Esther Pomares, Laura Lorés-Motta, Raul Tonda, Joaquín Dopazo, Gemma Marfany, Roser Gonzàlez-Duarte   +6 more
doaj   +1 more source

Afferent activity to necklace glomeruli is dependent on external stimuli

BMC Research Notes, 2009
Background The main olfactory epithelium (MOE) is a complex organ containing several functionally distinct subpopulations of sensory neurons. One such subpopulation is distinguished by its expression of the guanylyl cyclase GC-D.
Munger Steven D, Margolis Frank L, Cockerham Renee E   +2 more
doaj   +1 more source

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PLoS ONE, 2014
PurposeRetinal dystrophies are genetically heterogeneous, resulting from mutations in over 200 genes. Prior to the development of massively parallel sequencing, comprehensive genetic screening was unobtainable for most patients. Identifying the causative
Christopher M Watson, Mohammed El-Asrag, David A Parry, Joanne E Morgan, Clare V Logan, Ian M Carr, Eamonn Sheridan, Ruth Charlton, Colin A Johnson, Graham Taylor, Carmel Toomes, Martin McKibbin, Chris F Inglehearn, Manir Ali   +13 more
doaj   +1 more source

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

PLoS ONE, 2013
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration (RD), and the most common cause of incurable blindness diagnosed in children.
Isabelle Perrault, Alejandro Estrada-Cuzcano, Irma Lopez, Susanne Kohl, Shiqiang Li, Francesco Testa, Renate Zekveld-Vroon, Xia Wang, Esther Pomares, Jean Andorf, Nisrine Aboussair, Sandro Banfi, Nathalie Delphin, Anneke I den Hollander, Catherine Edelson, Ralph Florijn, Marc Jean-Pierre, Corinne Leowski, Andre Megarbane, Cristina Villanueva, Blanca Flores, Arnold Munnich, Huanan Ren, Ditta Zobor, Arthur Bergen, Rui Chen, Frans P M Cremers, Roser Gonzalez-Duarte, Robert K Koenekoop, Francesca Simonelli, Edwin Stone, Bernd Wissinger, Qingjiong Zhang, Josseline Kaplan, Jean-Michel Rozet   +34 more
doaj   +1 more source

Cone rod dystrophies

Orphanet Journal of Rare Diseases, 2007
Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the ...
Hamel Christian P
doaj   +1 more source