Results 111 to 120 of about 56,421 (278)

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

Strong and weak resultatives with result roots in English and Spanish

Isogloss
We consider a subclass of result verbs in Rappaport Hovav & Levin’s (2010) sense built on roots that entail change (Beavers & Koontz-Garboden, 2020), e.g., break, melt, explode, and tear. We argue that this class of roots possesses different grammatical
Ryan Walter Smith, Josep Ausensi, Jianrong Yu   +2 more
doaj   +1 more source

Rhetorical Functions of Reporting Verbs in Author Prominent Citations of Graduate Students’ Research Papers

, 2017
This study investigates the rhetorical functions of reporting verbs employed in the author prominent citations of research papers written by graduate students.
Suharsono, Suharsono; State University of Surabaya, Amrullah, Qadrina Lailyn; State University of Surabaya, Munir, Ahmad; State University of Surabaya   +2 more
core   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Subjektová rezultativa v češtině ve srovnání s ruštinou : Subjective Resultatives in Czech Compared with Russian [PDF]

Časopis pro Moderní Filologii, 2015
Subjective resultatives (SR) are constructed from intransitive verbs that denote a change of state. In Czech, a participle in -l- is often used. Russian is said to have only very restricted SR as mostintransitive non-reflexive verbs do not form a ...
Giger, Markus
doaj  

Serial verbs

, 2018
Serial verb constructions, or serial verbs, are sequences of verbs without any overt marker of coordination, subordination, or syntactic dependency of any sort.
Aikhenvald, Alexandra Y., Alexandra Y. Aikhenvald   +1 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Grammaticalization and lexicalization: suggestions regarding the development of the Chinese change-of-state verb

Acta Linguistica Asiatica, 2018
This paper discusses the evolution of the Chinese verb 断 (duàn ‘break’), exploring how the lexicon has transformed from being a substantive transitive verb in the past to the various functions it fulfils in contemporary Chinese: i.e. a resultative complement, an adjective, an adverb and a noun. Findings reveal that duàn was initially transitive and its
openaire   +3 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro, Randi J. Hagerman, Giuseppina Spano, Flora Tassone, Giancarlo Logroscino, Andrea Bosco   +5 more
wiley   +1 more source