Results 101 to 110 of about 874,608 (238)

De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review. [PDF]

Diagnostics (Basel), 2022
Syu YM, Ma JY, Ou TH, Lee CL, Lin HY, Lin SP, Lee CJ, Chen CP.   +7 more
europepmc   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome

, 2013
[[abstract]]We present prenatal diagnosis of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 22 associated with cat eye syndrome (CES) using cultured amniocytes in a pregnancy with fetal microcephaly, intrauterine ...
陳持平;Chen, Chih-Ping;Tsang-Ming, K;Ko, Tsang-Ming;Chen, Yi-Yung;Su, Jun-Wei;Wang, Wayseen;
core  

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

The First Neocentric, Discontinuous, and Complex Small Supernumerary Marker Chromosome Composed of 7 Euchromatic Blocks Derived from 5 Different Chromosomes. [PDF]

Biomedicines, 2022
Weber A, Liehr T, Al-Rikabi A, Bilgen S, Heinrich U, Schiller J, Stumm M.   +6 more
europepmc   +1 more source

Identification of Novel Interacting Proteins of FUZ and GPR161

PROTEOMICS, EarlyView.
ABSTRACT Protein–protein interactions are central to the dynamic regulation of signaling pathways and provide critical insight into the cellular mechanisms underlying human disease. Our previous study demonstrated biochemical and genetic interactions between FUZ and GPR161 in sonic hedgehog signaling during spinal neural tube development. In this study,
Gabriella Salazar, Anna Battenhouse, Andrew J. Kim, Sung‐Eun Kim   +3 more
wiley   +1 more source

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC). [PDF]

Mol Cytogenet, 2021
Domaradzka J, Deperas M, Obersztyn E, Kucińska-Chahwan A, Brison N, Van Den Bogaert K, Roszkowski T, Kędzior M, Bartnik-Głaska M, Łuszczek A, Jakubów-Durska K, Vermeesch JR, Nowakowska BA.   +12 more
europepmc   +1 more source

From knowledge to action: the importance of characterizing herbicide resistance mechanisms for implementing management strategies

Pest Management Science, EarlyView.
This review bridges the gap between understanding resistance mechanisms and applying them in weed management, highlighting how mechanistic insights reveal vulnerabilities that can guide more effective control strategies. Abstract Herbicide resistance remains one of the most intensively studied areas in weed science because of its direct consequences ...
Luan Cutti, Eric L. Patterson, Todd A. Gaines, Aldo Merotto   +3 more
wiley   +1 more source

Prenatal diagnosis of de novo small supernumerary marker chromosome 4q (4q11-q12): A case report. [PDF]

Int J Reprod Biomed, 2021
Mohammadi R, Taheri R, Shahriyari F, Feiz F, Mohammadi Z, Shirian S, Raoofian R, Malekpour A, Pazhoomand R.   +8 more
europepmc   +1 more source

Nanomedicine applications in lymphoma: Advancing precision diagnostics, targeted therapeutics, and prospective developments

VIEW, EarlyView.
Lymphoma is a group of blood cancers that can appear in lymph nodes, blood, bone marrow, spleen, liver, or the central nervous system, which makes drug delivery and disease monitoring difficult. This review summarizes how nanomedicine technologies may improve targeted treatment and imaging, while carefully separating approved or guideline‐supported ...
Mohd Ahmar Rauf, Yara Mashal, Afeefa Rao, Nasar Ata, Arun K. Iyer, Farhan Shah   +5 more
wiley   +1 more source

Extraocular Photoreception in Optic Lobes, Suckers, and Skin of Octopus vulgaris

Integrative Zoology, EarlyView.
Evidence of extra‐ocular photoreception in Octopus vulgaris (a) Diagram of the O. vulgaris different tissues considered: SPB, sucker proximal big; SPL, sucker proximal large; SM, sucker medium; SD, sucker distal; SK, skin; OL, optic lobes; RT, retina; (b‐d) Gene expression analysis of Ov‐GRK1 (red), Ov‐retinochrome (green), Ov‐rhodopsin (blue) mRNA ...
Valeria Maselli, Al‐Sayed Al‐Soudy, Mariangela Norcia, Stefania Galdiero, Sara Palladino, Emanuela Cirillo, Gianluca Polese, Anna Di Cosmo   +7 more
wiley   +1 more source