Results 191 to 200 of about 243,339 (266)

Population Growth and the Urology Workforce in West Java, Indonesia: A Distribution and Projection Study. [PDF]

Res Rep Urol
Sihombing AT, Kartika A, Hengky A.
europepmc   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Park green space accessibility and equity for age-friendly urban living in Kunming's central district. [PDF]

Sci Rep
Jiaxin S, Jiansong P.
europepmc   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Utilizing age-friendly cities and communities to support access to vaccination, vision, hearing and oral healthcare. [PDF]

Front Aging
Cruise C, Bouzanis K, Sangster A, Hyeon-A Kim S, Barratt J.   +4 more
europepmc   +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

Late-onset Legg-Calvé-Perthes Disease Treated with Varus Derotation Femoral Osteotomy: A Case Report. [PDF]

J Orthop Case Rep
Gamadia M, Habboub S, Gamadia B, Panchal H.   +3 more
europepmc   +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

Integrated housing reconstruction model post-earthquake and tsunamis: Emphasising sustainable construction and local wisdom towards disaster-resilient cities. [PDF]

Jamba
Indramanik IBG, Sudarsana DK, Astana INY, Yana AGA.   +3 more
europepmc   +1 more source