Results 71 to 80 of about 23,482 (252)

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Paronüümide kosmos. Eesti ja saksa keelt kõrvutav käsitlus

Keel ja Kirjandus
In Europe and Estonia, linguistic research on paronyms has been rather limited. This article presents a corpus-based comparative study of Estonian and German paronyms, the results of which were included in the German online dictionary ­Paronyme ...
Lydia Risberg
doaj   +1 more source

A romániai magyar kisebbségi helységnév a nyelvi tervezés érdeklődési körében

Névtani Értesítő, 2014
Hungarian minority settlement names in Romania in relation to language planning     This paper discusses language planning strategies affecting Hungarian minority settlement names in Romania after the change of the political regime.
Magdolna Csomortáni
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Turning a new leaf: PhenoVision provides leaf phenology data at the global scale

Applications in Plant Sciences, EarlyView.
Abstract Premise Plant phenology dictates many aspects of community function and ecosystem dynamics. Yet, global phenology data are still limited, especially in areas lacking monitoring programs. Here we present a new data resource, PhenoVision–Leaf, which extends a computer vision pipeline utilizing iNaturalist digital image vouchers to produce global‐
Erin L. Grady, Ellen G. Denny, Carrie E. Seltzer, John Deck, Daijiang Li, Russell Dinnage, Robert P. Guralnick   +6 more
wiley   +1 more source

Comparative and functional anatomy of masticatory muscles and bite force in opossums (Didelphimorphia, Didelphidae)

The Anatomical Record, EarlyView.
We describe the functional anatomy of masticatory muscles in nine opossums, finding a generalized anatomical pattern with differences related to skull morphology. Variation in quantitative myological data and estimated bite force was mostly related to size, and the increase in bite force supports dietary diversification associated with size increase ...
Juann A. F. H. Abreu, Diego Astúa
wiley   +1 more source

Neuroanatomical diversity in Teleocichla with new volumetric and histological insights into the encephalon of Teleocichla monogramma Kullander 1988

The Anatomical Record, EarlyView.
Abstract Teleocichla comprises small cichlids that inhabit the rapid streams of Amazonian rivers; however, there has been limited research on their encephalon morphology. This study examined the neuroanatomy of four species, focusing on volumetric measurements of their encephalon subregions, and providing a histological description of the encephalon of
Renan Leão‐Reis, Keila Xavier Magalhães, Thiago Nilton A. Pereira, Janice Muriel‐Cunha, Alberto Akama   +4 more
wiley   +1 more source

Language policy for official languages in East Timor: the Portuguese and Tetum-Praça

Gragoatá, 2012
This paper intends to analyze language policy and language planning for Portuguese and Tétum-Praça in Timor-Leste in view of the fact that both languages are guaranteed as official languages in the 2002 National Constitution.
Davi Borges de Albuquerque, Kerry Taylor-Leech   +1 more
doaj  

Cortical bone distribution in the human mandibular symphysis: Ontogenic and morphometric approaches in archeological context

The Anatomical Record, EarlyView.
Abstract The human mandibular symphysis concentrates multiaxial loads during function and remodels throughout growth, but the precise mechanisms underlying cortical bone shape during growth remain relatively unexplored. Approaches based solely on thickness or external cortical contours provide only partial insights and do not capture the functional ...
Ana Ribeiro, Elsa Garot, Christine Couture, Pierre‐Hadrien Decaup   +3 more
wiley   +1 more source