Results 81 to 90 of about 874,608 (238)

Establishing consensus diagnostic criteria for ring chromosome 20 syndrome: A modified electronic Delphi consensus study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to establish expert consensus clinical and diagnostic criteria for ring chromosome 20 syndrome using a modified electronic Delphi process. Methods In this modified two‐round electronic Delphi consensus study, international experts rated candidate statements using a 9‐point Likert scale.
Abizairie Sánchez‐Feliciano, William D. James, Mark P. Fitzgerald, Allison Watson, Angela Peron, Antonio Gil‐Nagel, Kenneth A. Myers, Kentaro Tokumoto, Lieven Lagae, Nancy B. Spinner, Rhys H. Thomas, Rudolf R. Roth, Sarah Woodson, Tim Buckinx, Yushi Inoue, John S. Barbieri   +15 more
wiley   +1 more source

PRENATAL DIAGNOSIS OF DE NOVO SUPERNUMERARY MARKER CHROMOSOME ORIGINATED FROM CHROMOSOME 16 BY ARRAY-CGH.

, 2015
Prenatal diagnosis of de novo supernumerary marker chromosome originated from chromosome 16 by array-CGH: A 33 years-old pregnant woman was referred for amniocentesis at 19 weeks of gestation due to abnormal serum biochemistry.
Karauzum, S. B., Sanhal, C., Yakut, S., Karaman, Birsen, Simsek, M., Cetin, Z.   +5 more
core  

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

, 2009
Supernumerary marker chromosome 15 (sSMC[ 15]) is the most frequent marker chromosome, and it is generally regarded as unimportant if it does not contain the Prader-Willi/Angelman syndrome critical region (PWACR).
Koc, Altug, Altuğ Koç, Onur, S. Oeduel, PERÇİN, FERDA EMRİYE, Mehmet Ali Ergün, S. Ödül Onur, E. Ferda Perçin, ERGÜN, MEHMET ALİ   +7 more
core   +1 more source

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 concomitant familial small supernumerary marker chromosome derived from chromosome 4q (4q11.1–q13.2) and 5q13.2 microdeletion with no apparent phenotypic abnormality

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present prenatal diagnosis and molecular cytogenetic characterization of concomitant familial small supernumerary marker chromosome 4 [sSMC(4)] derived from 4q11.1–q12 and q13.2, and 5q13.2 microdeletion with no apparent phenotypic ...
Chih-Ping Chen, Schu-Rern Chern, Yen-Ni Chen, Shin-Wen Chen, Peih-Shan Wu, Chien-Wen Yang, Chen-Chi Lee, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +9 more
doaj   +1 more source

Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Molecular Cytogenetics, 2009
Background The heterogeneous group of small supernumerary marker chromosomes (sSMCs) presents serious counseling problems, especially if they are present de novo and diagnosed prenatally. The incidence has been estimated at 1 in 1000 prenatal samples. We
Garas Antonios, Weise Anja, Ewers Elisabeth, Kosyakova Nadezda, Kontodiou Maria, Lagou Magdalini, Manolakos Emmanouil, Kitsiou-Tzeli Sofia, Orru Sandro, Liehr Thomas, Metaxotou Aikaterini   +10 more
doaj   +1 more source

Toward Objective Anal Cancer Screening: From Swab‐Based Genome‐Wide Methylation Marker Discovery to Novel Test Development

International Journal of Cancer, EarlyView.
ABSTRACT Anal high‐grade squamous intraepithelial lesions (HSIL:AIN2/3) are precursors to anal cancer, and early detection and treatment through screening is crucial for effective cancer prevention. Current guidelines recommend anal swab‐based screening and highlight the need for objective biomarkers to improve risk stratification.
Kirsten Rozemeijer, Jürgen Claesen, Fernando Dias Gonçalves Lima, Albertus T. Hesselink, Phoebe Klingers, Timo ter Braak, Yara van den Burgt, Chris J. L. M. Meijer, Jan M. Prins, Henry J. C. de Vries, Mark A. van de Wiel, Renske D. M. Steenbergen   +11 more
wiley   +1 more source

Gene Expression Biomarkers for Breast Ductal Carcinoma in Situ Recurrence Prediction

International Journal of Cancer, EarlyView.
ABSTRACT Breast ductal carcinoma in situ (DCIS) is often overtreated due to a lack of robust prognostic and predictive tools. This study aimed to evaluate gene expression in a well‐characterised DCIS cohort to determine their clinical utility as biomarkers for ipsilateral recurrence. RNA was extracted from microdissected tissues from primary DCIS.
Alexandria Un, Sakshi Mahale, David Byrne, Dorothea Lesche, Carlos Martinez‐Perez, Jia‐Min Pang, Maree Pechlivanis, Hugo Saunders, Madawa W. Jayawardana, Tongtong Luo, Sureshni I. Jayasinghe, Tanjina Kader, Lisa Devereux, Puay Hoon Tan, Andrew R. Green, Emad A. Rakha, Arran K. Turnbull, Stephen B. Fox, G. Bruce Mann, Kylie L. Gorringe   +19 more
wiley   +1 more source

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2

, 2012
[[abstract]]"Objective To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)].
陳持平;Chen, Chih-Ping;Jun-Wei Su, ;Alan Hwa-Ruey Hsieh, ;Hsieh, Alex Hwa-Jiun;Wang, Wayseen
core  

Infection mechanisms of Rhizoctonia cerealis in wheat

iMeta, EarlyView.
We discover that R. cerealis (Rc) is a primary pathogen causing sharp eyespot of wheat after 335 distinct isolates were isolated from 1683 SE‐diseased wheat plants across China over 7 years using a single hyphal tip isolation method. We then generated high‐quality reference genomes via de novo sequencing of five representative Rc isolates and ...
Yan Ren, Ti Liu, Heying Zhao, Qirun Qian, Lufei Cui, Zhipeng Sun, Wenkai Yang, Peng Guo, Sisheng Wang, Lingran Zhang, Congwei Sun, Aolin Jia, Ning Zhang, Feng Chen   +13 more
wiley   +1 more source