Results 291 to 300 of about 237,110 (353)

Whole-genome sequencing identifies HOXD13 variants in syndactyly pedigrees. [PDF]

Hum Genomics
Xu YF, Zhang J, Wei TY, Zhang ML, Liu JE, Yang K, Tian YP, Hu HY.   +7 more
europepmc   +1 more source

A Novel Fetal Intracranial Measurement Contributing to the Differential Diagnosis of Fetal Microcephaly

Journal of Ultrasound in Medicine, EarlyView.
Objectives To evaluate the value of the thickness of the frontal lobe (TFL) and foramen magnum‐to‐cranium distance (FCD) for predicting poor neurodevelopmental outcomes in fetuses with a small head circumference (HC). Methods This retrospective observational study included 39 fetuses with HC < −2 standard deviations (SD) and 592 prospectively collected
Xi Du, Rong Zhu, HongJia Li, Ying Zhao, LinLin Wu, Hong Pan, YiNan Ma, XinLin Hou, JunYa Chen   +8 more
wiley   +1 more source

Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissense. [PDF]

Mol Genet Genomic Med
Wang Z, Shen X, Xu C, Wang R, Teng C, He Y, Wu W, Hong X.   +7 more
europepmc   +1 more source

First Report of Homozygous COL7A1 c.5756delG Mutation Causing Recessive Dystrophic Epidermolysis Bullosa in a Non‐Consanguineous Japanese Family

JEADV Clinical Practice, EarlyView.
ABSTRACT Severe recessive dystrophic epidermolysis bullosa (RDEB) is usually caused by biallelic loss‐of‐function mutations in COL7A1. While the c.5756delG variant has been previously reported in heterozygous form, its clinical impact in homozygosity has not been described.
Nozomi Kohama, Sayaka Yamaguchi, Teruki Yanagi, Yumi Akamine, Kimiko Nonaka, Daisuke Utsumi, Kenzo Takahashi   +6 more
wiley   +1 more source

Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease. [PDF]

Sci Rep
Lu W, Jin T, Yu X, Liu Y, Lu Z, Huang S, Wen Z, Yan H, Su C, Ye Y, Huang Z, Mo Z, Yu Z.   +12 more
europepmc   +1 more source

Rare Variants in HTRA1, SGTB, and RBM12 Confer Risk of Atherosclerotic Cardiovascular Disease Independent of Traditional Cardiovascular Risk Factors. [PDF]

Circ Genom Precis Med
Lockhart SM, Puri A, Zhao Y, Saudek V, Gardner EJ, Kentistou KA, Lam BYH, Day FR, O'Rahilly S, Perry JRB, Ong KK, Jackrel ME.   +11 more
europepmc   +1 more source

Exome Sequencing Identifies Variants in MLH1 and ERBB2 as Potential Cancer‐Predisposing Factors in Familial Early‐Onset Colorectal Cancer

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Colorectal cancer (CRC) has raised considerable health concerns worldwide, with increasing incidence rates, specifically among younger populations. Despite remarkable progress in diagnosing and treating various diseases, the genetic basis of CRC remains only partially understood.
Behnaz Bagheri, Neda Mohsen‐Pour, Najmeh Salehi, Pardis Ketabi Moghadam, Adel Zeinalpour, Amir Sadeghi, Samira Kalayinia, Nayeralsadat Fatemi   +7 more
wiley   +1 more source

Weighted Burden Analysis of Rare Genetic Variants Identifies Novel Genes with Effects on BMI.

Hum Hered
Curtis D.
europepmc   +1 more source

Identification of Two Rare Variants in Iranian Families With Familial Sudden Cardiac Death. [PDF]

Int J Genomics
Tahmasebivand M, Mehvari S, Ghodratpour F, Khoram Khorshid H, Malekzadeh R, Najafipour R, Riazalhosseini Y, Lathrop M, Najmabadi H, Kahrizi K.   +9 more
europepmc   +1 more source

Data‐Independent Acquisition Mass Spectrometry in Tumor Classification and Cancer Biomarker Research

Mass Spectrometry Reviews, EarlyView.
Abstract Cancer treatment is far from optimal also because current classification systems do not reflect the complex molecular status of the tumor and its phenotype in sufficient detail. To construct molecular tumor classifiers, omics tools provide complex molecular data reflecting many aspects from genotype to phenotype.
Jan Simonik, Petr Lapcik, Pavla Bouchalova, Pavel Bouchal   +3 more
wiley   +1 more source