Results 51 to 60 of about 467 (113)

Comprehensive application of multiple molecular diagnostic techniques in pre‐implantation genetic testing for monogenic

Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.
Applying a single method in PGT‐M will lead to a low detection success rate and false positive or false negative results due to the advantages and disadvantages of each technique. This study proposes a multi‐technology comprehensive application scheme, which can improve the detection efficiency and reliability of PGT.
Peng Huang, Yueyun Lan, Hong Zhou, Luye Lin, Jinhui Shu, Caizhu Wang, Xin Zhao, Lifang Liang, Sheng He, Jingfei Mou, Xiaofei Zhang, Qingming Qiu, Hongwei Wei   +12 more
wiley   +1 more source

Novel imaging finding and novel mutation in an infant with molybdenum cofactor deficiency: a mimicker of hypoxic ischaemic encephalopathy [PDF]

, 2018
Molybdenum cofactor deficiency is a rare metabolic disorder with neonatal onset seizures, developmental delay, microcephaly and spasticity. In this report, we describe a three-month-old infant presented with neonatal onset, poorly controlled seizures ...
Yoganathan, Sangeetha, Thomas, Maya Mary, Chandran, Mahalakshmi, Sudhakar, Sniya Valsa, Dutta, Atanu Kumar, Danda, Sumita   +5 more
core   +1 more source

Chromosomal integration of HPV16 genomes causes host transcript modulation through host:host interaction changes within TADs.

, 2021
(A) Comparative analysis of Hi-C libraries between clones G2 and D2 shows significant differentially interacting regions (DIRs) within the TAD of integration (red–increased host:host interactions in clone G2 vs D2; blue–decreased host:host interactions ...
Emma L. A. Drane (11331464), Csilla Várnai (3720010), Ian J. Groves (8703930), Marco Michalski (5007890), Cinzia G. Scarpini (11331470), Giovanni Bussotti (45579), Jack M. Monahan (11331467), Peter Fraser (32141), Stefan Schoenfelder (115930), Nicholas Coleman (95937), Stephen P. Smith (11331473), Anton J. Enright (11331476)   +11 more
core   +1 more source

Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients

Frontiers in Genetics
BackgroundInborn errors of metabolism (IEMs) are a rare and often underrecognized cause of spastic paraplegia in children and adults.Owing to their high energy demands and long axons, motor neurons and the corticospinal tracts are particularly vulnerable
Ola A. Khalifa, Tarek M. Youssef, Radwa G. Mahmoud   +2 more
doaj   +1 more source

Molybdenum Cofactor Deficiency Causing Neonatal Seizures and Global Developmental Delay [PDF]

, 2020
: Molybdenum cofactor deficiency is a rare degenerative brain disorder with autosomal recessive inheritance. It presents early in neonatal life with seizures, feeding difficulty and spasticity, sometimes misdiagnosed as neonatal hypoxic ischemic ...
Aziz, Sundal, Alvi, Javeria Raza, Sultan, Tipu   +2 more
core  

Molybdenum cofactor deficiency: Review of 12 cases (MoCD and review)

, 2013
Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties.
YİŞ, ULUÇ, Topcu, Yasemin, Ichida, Kimiyoshi, Bayram, Erhan, Kurul, Semra Hiz, Cakmakci, HANDAN, Karakaya, Pakize   +6 more
core   +1 more source

Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency

, 2010
Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase.
Gumus, Hakan, GAMZE POYRAZOĞLU, Poyrazoglu, Gamze, HAKAN GÜMÜŞ, Engelen, John, Dundar, Munis, Caglayan, Ahmet Okay, STIJN GHESQUIERE, AHMET OKAY ÇAĞLAYAN, MUNIS DUNDAR, Ichida, Kimiyoshi, Kumandas, Sefer, KIMIYOSHI ICHIDA, HÜSEYIN PER, Ghesquiere, Stijn, Kondolot, Meda, MEDA KONDOLOT, Per, HÜSEYİN, SEFER KUMANDAŞ, JOHN ENGELEN, Per, Hueseyin   +20 more
core   +1 more source

Molybdenum cofactor deficiency: Clinical features in a Turkish patient

, 2007
The molybdenum cofactor is. essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early ...
Kumandas, Sefer, Gumus, Hakan, Ichida, Kimiyoshi, ÇAĞLAYAN, AHMET OKAY, Per, Huseyin   +4 more
core   +2 more sources

Tiermodelle der Molybdän-Cofaktor-Defizienz und ihre Therapie [PDF]

, 2009
Die Molybdän-Cofaktor (MoCo) -Defizienz ist eine autosomal rezessiv vererbte Krankheit. An der MoCo-Biosynthese beim Menschen sind verschiedene Enzyme beteiligt, die von den Genen MOCS1, MOCS2, MOCS3 und GEPH kodiert werden.
Hahnewald, Rita
core   +1 more source

A Turkish case with molybdenum cofactor deficiency

, 2006
Molybdenum cofactor deficiency (MIM 252150) is a rare progressive neurodegenerative disorder with about 100 cases reported worldwide. We have identified a male with molybdenum cofactor deficiency and analyzed the molybdenum cofactor synthesis (MOCS) 1 ...
Aydin, H. Ibrahim, Shibasaki, T., Tokatli, A., Dursun, A., Ohno, I., Hosoyamada, M., Coskun, T., Kalkanoglu, H. Serap, Hosoya, T., Ichida, K.   +9 more
core   +1 more source