Results 231 to 240 of about 1,738,334 (287)

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

A reproducible mouse model of TMJ anterior disc displacement. [PDF]

JBMR Plus
Pacheco-Vergara M, Gioia D, Ko S, Sta Maria NS, Mariani FV, Merrill AE.   +5 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Genomic prediction of stalk lodging resistance and the associated intermediate phenotypes in maize using whole-genome resequence and multi-environmental data. [PDF]

Plant Genome
Silva CME, Kunduru B, Bokros N, Tabaracci K, Oduntan Y, Brar MS, Kumar R, Stubbs CJ, Nardino M, McMahan CS, DeBolt S, Robertson DJ, Sekhon RS, Morota G.   +13 more
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Performance of Fall Armyworm Spodoptera frugiperda Reared on Various Horticultural Crops

Entomologia Experimentalis et Applicata, EarlyView.
The developmental performance and reproductive success of the Australian population of fall armyworm (Spodoptera frugiperda) were evaluated on five horticultural crops under laboratory conditions. Sweetcorn and bean supported rapid development, lower mortality, and higher fecundity (good performance); whereas capsicum, strawberry, and okra resulted in ...
Rajendra Regmi, Soo Jean Park, Rabia Ali, Sanjana Akter, Fazila Yousuf, Bishwo Mainali   +5 more
wiley   +1 more source

Optimizing corn productivity: Hybrid and intra-row spacing effects on growth, yield, and nutritional quality. [PDF]

Sci Rep
Hamoda A, Dabbour M.
europepmc   +1 more source

Noise Exposure in a Dental Teaching Hospital: Investigations and Recommendations for Dental Personnel

European Journal of Dental Education, EarlyView.
ABSTRACT Introduction Exposure to excessive noise is a highly preventable occupational risk, with irreversible side effects that may negatively impact an individual's quality of life, such as noise‐induced hearing loss and tinnitus. Dental personnel may be at particular risk due to their exposure to high levels of noise from dental equipment.
Liath O' Shea, Amr El Refaie, Ciara Moloney, Niamh Coffey   +3 more
wiley   +1 more source