Results 71 to 80 of about 5,996,346 (272)

Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell [PDF]

Journal of Histochemistry & Cytochemistry, 2011
Small supernumerary maker chromosomes (sSMC) and uniparental disomy (UPD) are rare, and a combination of both is rarely encountered. Accordingly, only 46 sSMC cases UPD have been reported. Despite of its rareness, UPD has to be considered, especially in prenatal cases with sSMC.
Thomas, Liehr, Elisabeth, Ewers, Ahmed B, Hamid, Nadezda, Kosyakova, Martin, Voigt, Anja, Weise, Marina, Manvelyan   +6 more
openaire   +2 more sources

Assembly and Maintenance of Myofibrils in the Heart

Cytoskeleton, EarlyView.
ABSTRACT The assembly of actin and myosin to the paracrystalline arrangement of myofibrils in striated muscle, that is, heart and skeletal, has puzzled many a cell biologist. Different models, based on cultured cardiomyocytes, were proposed for the last 30 years to explain the sequence of events.
Elisabeth Ehler
wiley   +1 more source

Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

Molecular Cytogenetics, 2020
Background Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and explored the molecular characteristics
Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu, Shaohua Tang   +6 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from inv dup(15)

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) at amniocentesis associated with ...
Chih-Ping Chen, Hsiang-Yu Lin, Liang-Kai Wang, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Sisca Fran, Yun-Yi Chen, Dai-Dyi Town, Chen-Wen Pan, Wayseen Wang   +11 more
doaj   +1 more source

Reflex seizures and epilepsy surgery: A network approach case‐based exploration

Epileptic Disorders, EarlyView.
Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron, Laure Salmon, Nicolas Nguyen, Dènahin Toffa, Sami Obaid, Alexis Robin, Dang Khoa Nguyen   +6 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2020
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from 2q11.1-q12.1 associated with fetal bilateral radial dysplasia.
Chih-Ping Chen, Chen-Ju Lin, Shin-Wen Chen, Fang-Tzu Wu, Schu-Rern Chern, Peih-Shan Wu, Yun-Yi Chen, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 21

, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ ...
陳持平;Chen, Chih-Ping;Lin, Chyi-Chyang;Ko, Tsang-Ming;Tsai, Fuu-Jen;Chern, Schu-Rern;Lee, Chen-Chi;Chen, Yu-Ting;Wu, Pei-Chen;Wang, Wayseen, 陳持平;Chen, Chih-Ping;Lin, Chyi-Chyang;Su, Yi-Ning;Tsai, Fuu-Jen;Chern, Schu-Rern;Lee, Chen-Chi;Chen, Wen-Ling;Chen, Li-Feng;Wu, Pei-Chen;Wang, Wayseen   +1 more
core  

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 8

, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 8 by multiplex ligation-dependent probe amplification (MLPA), fluorescence in situ ...
陳持平;Chen, Chih-Ping;Chen, Ming;Ko, Tsang-Ming;Ma, Gwo-Chin;Tsai, Fuu-Jen;Tsai, Ming-Song;Wu, Pei-Chen;Lee, Chen-Chi;Che, Li-Feng;Wang, Wayseen
core