Results 71 to 80 of about 275,032 (341)

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Maternal risk factors for oral clefts: A case-control study [PDF]

, 2012
Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control
Golalipour, M.J., Kaviany, N., Mobasheri, E., Qorbani, M.   +3 more
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Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Oral papillary squamous cell carcinoma (OPSCC): a rare presentation in the palate

Journal of Oral Medicine and Oral Surgery, 2020
Introduction: Oral papillary squamous cell carcinoma (OPSCC) is a rare variant of squamous cell carcinoma with an unusual presentation in the palate. Observation: This case report presents a 68 year old male who reported with pain in the roof of the jaw ...
Karthik K.P., Balamurugan R., Sahana Pushpa T.   +2 more
doaj   +1 more source

Guide to the Cole Danehower Collection [PDF]

, 2017
This collection is comprised of materials from Cole Danehower’s careers, both his time as a wine writer and before he relocated to Oregon. Materials include articles written by Danehower, information collected on a variety of topics related to the wine ...
Linfield College Archives
core   +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

Comparison of two different secondary rhinoplasties in patients with complete unilateral cleft lip and palate

BMC Surgery
Background The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in
Shuxia Dong, Yulang Xu, Ni Zeng, Chenghao Li, Yang Li, Yan Wang, Bing Shi, Qian Zheng   +7 more
doaj   +1 more source

Intraoral Acanthosis nigricans and its clinical relevance as a manifestation of a paraneoplastic syndrome: A case report.

Journal of Oral Research, 2019
Malignant-or-paraneoplastic acanthosis nigricans is a verrucous and hyperpigmented tumor affecting the mucosa and skin. In most cases malignant acanthosis nigricans is a distant manifestation of an intra-abdominal primary cancer.
Francisca Donoso-Hofer, Jaime de la Maza-Acevedo   +1 more
doaj   +1 more source

Detection of Single Nucleotide Polymorphism Rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate [PDF]

, 2019
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of ...
Shehzad, H. (Husnain), Shehzad, O. (Osheen)   +1 more
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