Results 31 to 40 of about 106,981 (266)

Staging an Experience of Cultural Heritage Preservation: Consumers' Willingness to Pay for Heirloom Rice in the Philippines

Agribusiness, EarlyView.
ABSTRACT The Cordillera Administrative Region in the Philippines is home to terraced rice embedded in centuries of cultural heritage. However, weak market incentives threaten sustained production, jeopardizing indigenous communities' cultural heritage and the in situ biodiversity of rice genetic resources.
Kofi Britwum, Matty Demont
wiley   +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

Dynamic changes in nasal symmetry after presurgical nasoalveolar molding in infants with complete unilateral cleft lip and palate

African Journal of Paediatric Surgery, 2020
Background: Presurgical nasoalveolar molding (PNAM) technique gave a new perspective to presurgical infant orthopedics. Nasal reconstruction presents a challenge for the plastic surgeons in case of patients with unilateral cleft lip and palate (UCLP ...
Seema Thakur, Anjali Singh, Vijay Kumar Diwana, Alka Rani, Narbir Singh Thakur   +4 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan, Jessica A. Kraker, Denise J. Morgan, Lisa A. Schimmenti, M. Elizabeth Hartnett, Eileen S. Hwang   +5 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Methylene Blue Injection for Pain Reduction at Iliac Crest Donor Sites: A Randomized Trial and Meta-analysis

Plastic and Reconstructive Surgery, Global Open
Background:. Postoperative pain and gait disturbance after iliac bone grafting for alveolar clefts significantly impact patients’ quality of life. This study investigated the effect of methylene blue on postoperative analgesia and conducted a meta ...
Cheng Yao, MD, Yilue Zheng, MD, Haizhou Tong, MD, Di Wu, MD, Weiyi Sun, MD, Shuxiu Chen, MD, Yongqian Wang, MD, Tao Song, MD   +7 more
doaj   +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

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

Effect of Laser Posterior Nasal Neurolysis for the Treatment of Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao, En‐Ying Wang, Ying‐Shuo Hsu, Ming‐Shao Tsai, Cheng‐Jung Wu, Chia‐Hao Chang, Yi‐Li Hwang, Han‐Lo Teng, Jun‐Wei Hsieh, Chien‐Yu Huang   +9 more
wiley   +1 more source