Results 61 to 70 of about 31,737 (296)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

The Biological Anthropology of Living Human Populations: World Histories, National Styles, and International Networks [PDF]

, 2012
We introduce a special issue of Current Anthropology developed from a Wenner-Gren symposium held in Teresópolis, Brazil, in 2010 that was about the past, present, and future of biological anthropology.
Lindee, Susan M, Santos, Ricardo V, Ventura Santos, R., Lindee, S.   +3 more
core   +2 more sources

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

A preliminary study of crania from the necropolis near Tura Khan Mausoleum (14th — 15th cc. AD, Southern Pre-Urals) [PDF]

Вестник археологии, антропологии и этнографии
The article presents the results of preliminary study of eight male crania from the Early Muslim burials excavated at the necropolis near Tura Khan Mausoleum (Chishminsky District, Republic of Bashkortostan).
Kufterin V.V. , Nasretdinov R.R. , Gabitov R.N. , Nechvaloda A.I.   +3 more
doaj   +1 more source

A preliminary analysis of the effectiveness of online practical laboratory delivery using 3D models for higher education courses in biological anthropology

Evolution: Education and Outreach, 2023
Practical-based laboratory instruction represents a substantial component of education in biological anthropology, a multidisciplinary field concerned with investigating human evolution, biology, and behaviour from an evolutionary perspective.
Stacey M. Ward, Katharine L. Balolia, Laura A. B. Wilson   +2 more
doaj   +1 more source

Market Integration Predicts Human Gut Microbiome Attributes across a Gradient of Economic Development

mSystems, 2018
Economic development is marked by dramatic increases in the incidence of microbiome-associated diseases, such as autoimmune diseases and metabolic syndromes, but the lifestyle changes that drive alterations in the human microbiome are not known.
Keaton Stagaman, Tara J. Cepon-Robins, Melissa A. Liebert, Theresa E. Gildner, Samuel S. Urlacher, Felicia C. Madimenos, Karen Guillemin, J. Josh Snodgrass, Lawrence S. Sugiyama, Brendan J. M. Bohannan   +9 more
doaj   +1 more source

Healthcare services relaxing natural selection may contribute to increase of dementia incidence

Scientific Reports, 2022
Ageing and genetic traits can only explain the increasing dementia incidence partially. Advanced healthcare services allow dementia patients to survive natural selection and pass their genes onto the next generation.
Wenpeng You, Renata Henneberg, Maciej Henneberg   +2 more
doaj   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +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

Lateral and vertical transfer in biology, linguistics and anthropology - An account of widely neglected ideas in the formation of evolutionary theories [PDF]

, 2013
Models of biological and cultural evolution that developed from the 19th century onward are characterized by two main features:(1)They were mostly centered on the unilinear transmission of cultural and biological replicators (among others, languages ...
Krischel, Matthis, Kressing, Frank
core