Results 61 to 70 of about 718 (127)

Supplementary Material for: A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

, 2017
We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome
Calvel P. (4132804), Makrythanasis P. (4157758), Gimelli S. (4122862), Kusz-Zamelczyk K. (4157764), Béna F. (4122856), Conne B. (4132786), Borel C. (4157761), Janecki D. (4157773), Vannier A. (4157767), Fichna P. (4157770)   +9 more
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Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

, 2000
Molybdenum cofactor deficiency (MoCoD) is an autosomal recessive, fatal neurological disorder, characterized by the combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase. We have recently reported an excessive occurrence of
Dorche, C., Shalev, Stavit A., Arieh, D., Anbinder, Y., Cohen, N., Hugeirat, Y., Zabot, M. T., Ronit, Z., Shalata, A., Mandel, H., Reiss, Jochen   +10 more
core   +1 more source

Prenatal Brain Disruption in Molybdenum Cofactor Deficiency

, 2011
Molybdenum cofactor deficiency is a rare autosomal recessive disorder that may present during the neonatal period with intractable seizures and be mistaken for ischemic encephalopathy.
Hanna Mandel, Nirit Carmi-Nawi, Gustavo Malinger, Dorit Lev, Kimiyoshi Ichida, Tally Lerman-Sagie   +5 more
core   +1 more source

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis

, 2015
We report the case of a female patient suffering from a 46,XY disorder of sexual development (DSD) with complete gonadal dysgenesis and Wiedemann-Steiner Syndrome (WDSTS). The coexistence of these 2 conditions has not yet been reported. Using whole exome
Gimelli, Stefania, Calvel, Pierre, Kusz-Zamelczyk, Kamila, Sloan Bena, Frédérique, Antonarakis, Stylianos, Makrythanasis, Periklis, Vannier, Anne, Janecki, Damian, Borel, Christelle, Fichna, Piotr, Conne, Béatrice, Jaruzelska, Jadwiga, Nef, Serge, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Nef S, Gimelli S, Vannier A, Béna F, Antonarakis SE, Fichna P, Calvel P, Jaruzelska J   +25 more
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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

, 1998
Reiss J, Cohen N, Dorche C, et al. Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency. NATURE GENETICS. 1998;20(1):51-53.All molybdoenzymes other than nitrogenase require molyb-dopterin as a metal-binding cofactor(1).
Dierks, Thomas, Dorche, C, Cohen, N, Mandel, H, Reiss, J, Mendel, RR, Stallmeyer, B, Zabot, MT   +7 more
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Exploration of the Molybdenum Cofactor gene in the fruit fly Drosophila melangoster

, 2017
Molybdenum (Mo) is an essential trace metal found in most foods. Enzymes that require Mo cannot use this metal unless it is chelated with an organic complex called the Mo cofactor.
McQualter, Jazmyne, Ibsen, Camille
core  

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene

, 2017
We describe the clinical presentation and 17 years follow up of a boy, born to consanguineous parents and presenting with intellectual disability (ID), autism, "marfanoid" dysmorphic features, and moderate abnormalities of sulfite metabolism compatible ...
Jan G. M. Huijmans, Grazia M. S. Mancini, Monique Williams, Williams, Monique, Rachel Schot, Marinus Duran, Schot, Rachel, van Slegtenhorst, Marjon, René F. M. de Coo, Frans W. Verheijen, Johannis B. C. de Klerk, Marjon van Slegtenhorst, Huijmans, Jan, Verheijen, Frans, Verheijen - Mancini, Grazia, Duran, M, Coo, IFM, Klerk, Hans   +17 more
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Mocs1 (Molybdenum cofactor synthesis 1) may contribute to lifespan extension in Drosophila. [PDF]

MicroPubl Biol, 2022
Lamont EI, Lee M, Burgdorf D, Ibsen C, McQualter J, Sarhan R, Thompson O, Schulze SR.   +7 more
europepmc   +1 more source

Genetic dissection of aggression in Drosophila melanogaster

, 2018
Aggression is conserved among a large number of animal species, which allows animals to compete for food, mate and defend their territories. Aggressive behaviours can occur between two individuals within the same species.
Ramin, Mahmoudreza
core  

Late-Onset Molybdenum Cofactor Deficiency Type A:A Treatable Cause of Developmental Delay

Subjects:Developmental/Behavioral Health, Genetics, Growth/Development MilestonesTopics:combined molybdoflavoprotein enzyme deficiency, developmental delay, fosdenopterin, xanthine, creatinine, uric acid, hypoxanthine, genesMolybdenum cofactor deficiency
Lund, Allan M., Tangeraas, Trine, Confer, Nils, Squires, Liza, Christensen, Mette, Brannsether, Bente, Berland, Siren   +6 more
core   +1 more source