Results 81 to 90 of about 31,737 (296)

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

An exploratory study on sex differences in musculoskeletal pain and its associated factors among the Santal indigenous people of West Bengal, India

Discover Social Science and Health
Background Musculoskeletal pain is a global health concern affecting both sexes. However, recent insights highlighted significant sex differences in its occurrence and experience, which are influenced by various factors.
Arpita Santra, Subrata Kumar Roy, Monali Goswami, Diptendu Chatterjee   +3 more
doaj   +1 more source

Raça, Sangue e Robustez. Os paradigmas da Antropologia Física colonial portuguesa

Cadernos de Estudos Africanos, 2005
During the first half of the twentieth century, Portuguese Colonial anthropology was almost completely centered in biological anthropology. The so called «Escola do Porto» («Oporto School») founded by the well reputed Doctor of Medicine, Professor Mendes
Rui M. Pereira
doaj   +1 more source

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 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

Ontogeny of masticatory muscle architecture in tufted and untufted capuchins [PDF]

National Science Foundation's Biological Anthropology directorateUniv Arkansas, Dept Anthropol, Fayetteville, AR 72701 USAArkansas Coll Hlth Educ, Dept Anat, Fayetteville, AR 72701 USADuke Univ, Sch Med, Dept Family Med & Community Hlth, Durham, NC 27706
Polvadore, Taylor A., De Oliveira, Jose Americo [UNESP], Terhune, Claire E., Fogaca, Mariana Dutra, Ross, Callum F., Laird, Myra F., Chalk-Wilayto, Janine, Taylor, Parker M., Kanno, Claudia Misue [UNESP], Yoakum, Caitlin B., Holmes, Megan A., Taylor, Andrea B.   +11 more
core  

A Companion to Biological Anthropology [book review] [PDF]

, 2011
The publication of a new volume in the Blackwell Companions to Anthropology series provides an opportunity to reflect on the nature and breadth of our discipline.
Anemone, Robert, NC DOCKS at The University of North Carolina at Greensboro   +1 more
core  

Pearl's causality for integrating ecological datasets: A case study on Myricaria germanica in northern Italy

Applications in Plant Sciences, EarlyView.
Abstract Premise Applied ecology can significantly influence policy decisions on environmental issues. Therefore, research in this field should be as transparent and reproducible as possible. Existing expertise from a broad range of disciplines should also be integrated into ecological research to allow researchers to maximize understanding of complex ...
Kailin Weitkämper, Kilian Rückschloß, Tommaso Sitzia, Bruno Michielon, Silke Werth, Felix Weitkämper   +5 more
wiley   +1 more source