Results 81 to 90 of about 75,040 (259)

Processed DepMap CCLE CNV file

, 2022
CCLE 21Q3 processed CCLE CNV ...
Jie Lyu (2590732)
core   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

The relationship between developmental changes of contingent negative variation (CNV) resolution and the scores of 4 cognitive tests

, 2003
本研究の目的は，随伴性陰性変動（CNV）の解消過程の個体発達に伴う変化と視覚短期記憶，聴覚短期記憶，視空間構成能力，実行機能などの認知発達との関係をとらえ，CNV解消課程が，どのような認知発達と関係するか検証することである．また，CNV解消課程と認知機能発達との関係が，P300と認知機能発達との関係とどう異なるかについても見た．　７～24歳（平均14歳２ヶ月±５歳７ケ月）の15名を対象に，CNV，CNV解消課程，P300を測定し，同時に実施した４種の認知検査（WISC-Ⅲの「数唱」，「積木模様」，K ...
船瀬, 広三, 東, 登志夫, 岩永, 竜一郎   +2 more
core  

Diagnostic copy number variants (CNV).

, 2021
Diagnostic copy number variants (CNV).
Juha Koskenvuo (4375090), Eija H. Seppälä (10090350), Kirsi Alakurtti (11372222), Akashdeep Singh (11372225), Tero-Pekka Alastalo (839757), Emanuela Izzo (11372219), Lotta Koskinen (3705991), Samuel Myllykangas (92474), Kimberly Gall (11372216), Inka Saarinen (10090344)   +9 more
core   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

Aqueous Concentrations of Vascular Endothelial Growth Factor in Eyes with High Myopia with and without Choroidal Neovascularization

Journal of Ophthalmology, 2013
Purpose. To investigate aqueous concentrations of vascular endothelial growth factor (VEGF) in eyes with myopic choroidal neovascularization (CNV). Methods.
Taku Wakabayashi, Yasushi Ikuno, Yusuke Oshima, Toshimitsu Hamasaki, Kohji Nishida   +4 more
doaj   +1 more source

Predictive factors for CNV development.

, 2022
Predictive factors for CNV development.
Fumi Gomi (278082), Hitomi Asato (757561), Erika Kimura (6411401), Masaaki Saito (259172), Yuichiro Ogura (6411404), Tomohiro Iida (259175), Yukinori Sugano (6411392), Mitsuko Yuzawa (833479), Ari Shinojima (833477), Aki Kato (588812), Chikako Hara (6411386), Tatsuro Ishibashi (104968), Mayumi Nakamura (766325), Miki Sawa (6411383), Yuji Oshima (276098), Yoshio Hirano (1967479), Ryusaburo Mori (6411380), Tsutomu Yasukawa (6411377), Tetsuju Sekiryu (6411389)   +18 more
core   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Binaural hearing in CNV [PDF]

, 1992
Binaural hearing contributes to enhancement of monaural hearing functions when both ears are simulaneously at work. Contingent negative variation (CNV) is an event related to potentials and can be used for objective audiometry by the use as an audiotory ...
Azuma, Hiroji, 東, 博二
core   +1 more source

Post-filter CNV counts and relative CNV frequency.

, 2014
The CNV counts shown here represent the 43,560 candidate CNVs that remain after applying the Post-filter. The first column shows a specific CNV count. The second set of columns show the number of control and case individuals observed at each given CNV ...
Rakesh Chettier (73475), Hans M. Albertsen (385379), Kenneth Ward (385381)   +2 more
core   +1 more source