Results 131 to 140 of about 199,308 (309)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Mosaic Ruler [PDF]

Science, 1970
openaire   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Magnetron Sputtering Synthesis of La‐Doped BiFeO3 Thin Films and Enhanced Exchange Bias in CoFeB/Bi1‐xLaxFeO3 Heterostructures

Advanced Physics Research, EarlyView.
This study explores the epitaxial growth of high‐quality La‐doped BiFeO3 (BLFO) thin films at 550 °C using magnetron sputtering. The films exhibit good ferroelectric properties and low leakage current. A BLFO/CoFeB heterostructure is constructed, achieving an exchange bias field exceeding the coercive field at room temperature.
Zhiqin Zhou, Ligang Bai, Chen Qi, Xiaoyang Lin, Ivair Aparecido dos Santos, Gustavo Sanguino Dias, Luiz Fernanado Cótica, Weisheng Zhao, Yanxue Chen, Tianxiao Nie, Guodong Wei   +10 more
wiley   +1 more source

Extent of chromosomal mosaicism influences the clinical outcome of in vitro fertilization treatments.

Fertility and Sterility, 2017
F. Spinella, F. Fiorentino, A. Biricik, S. Bono, A. Ruberti, E. Cotroneo, M. Baldi, Elisabetta Cursio, M. Minasi, E. Greco   +9 more
semanticscholar   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

The Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li, Mike Schindler, Martha Paskin, Venkata A. Surapaneni, Elliott Scott, Sabine Hauert, Nicholas Payne, David E. Cade, Jeremy A. Goldbogen, Frederik H. Mollen, Daniel Baum, Sean Hanna, Mason N. Dean   +12 more
wiley   +1 more source

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Genetics in Medicine, 2019
D. Evans, C. Hartley, Philip Smith, A. King, N. Bowers, S. Tobi, A. Wallace, M. Perry, Raji Anup, S. Lloyd, S. Lloyd, S. Rutherford, Charlotte L Hammerbeck-Ward, O. Pathmanaban, E. Stapleton, E. Stapleton, S. Freeman, S. Freeman, M. Kellett, D. Halliday, A. Parry, J. Gair, P. Axon, R. Laitt, Owen M Thomas, Shazia K Afridi, R. Obholzer, C. Duff, S. Stivaros, G. Vassallo, E. Harkness, M. Smith   +31 more
semanticscholar   +1 more source

Description of the skull, braincase, and dentition of Moschognathus whaitsi (Dinocephalia, Tapinocephalia), and its palaeobiological and behavioral implications

The Anatomical Record, EarlyView.
Abstract A subadult Moschognathus whaitsi from the Eastern Cape Province, South Africa, was scanned using synchrotron radiation X‐ray computed tomography (SRXCT). Its subadult state allowed the cranial bones and teeth to be identified and individually reconstructed in 3D.
Tristen Lafferty, Luke A. Norton, Aliénor Duhamel, Julien Benoit   +3 more
wiley   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]

Case Rep Genet
Abdelhamed Z, Dykas D, DiAdamo A, Chai H, Ma D, Spencer-Mazon M, Jiang YH, Wen J, Bale A, Li P, Zhang H.   +10 more
europepmc   +1 more source