Results 151 to 160 of about 1,253,731 (353)

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

A Clinical Study of the Distribution and Morphology of Harris Lines

Archaeometry, EarlyView.
ABSTRACT Harris lines are commonly used in bioarcheology to infer lifestyle in ancient populations; however, their etiology and identification parameters are still under debate. The aim of this study is to observe the distribution of the lesions in a contemporary clinical sample to address their association with etiological factors, age, biological sex,
Claudia Moro, Lucie Biehler‐Gomez, Pranavan Selliah, Carmelo Messina, Mayorathan Uruthirapasupathi, Daniele Maria Gibelli, Federica Boschi, Cristina Cattaneo   +7 more
wiley   +1 more source

Rowland Clark and Dan Holdeman Site Human Skeletal Remains [PDF]

, 1994
The Rowland Clark site was occupied by Caddoan Indian groups from approximately A.D. 1300-1600+. Twenty one of the 39 burials recovered during the Museum of the Red River excavations were assigned to the earliest McCurtain phase occupation (ca. A.D. 1300-
Loveland, Carol J.
core   +1 more source

Fossil bears break free from inhibitory cascade constraints at least twice (Ursus minimus and Ursus deningeri) caused by dietary adaptations

Boreas, EarlyView.
Bears deviate from the inhibitory cascade model (ICM) during molar size evolution, with two significant deviations linked to changes in diet: Ursus minimus and Ursus deningeri. Many bears exhibit a ‘partial ICM’, highlighting the relationship between relative molar size, dietary adaptations and dental development across different species.
Anneke H. van Heteren, A. Stefanie Luft
wiley   +1 more source

Precision Oncology for Pediatric Solid Tumors Using In‐Hospital Pediatric/AYA Malignancy‐Specific Panel Sequencing

Cancer Science, EarlyView.
Our findings indicate that a pediatric/AYA‐specific targeted panel deployed in a hospital can deliver rapid, clinically actionable molecular insights with high diagnostic and prognostic yield. This complements larger sequencing platforms by offering speed, focused content, and easier interpretation.
Masato Kojima, Sho Kurihara, Isamu Saeki, Ryo Touge, Keigo Nakashima, Shuhei Karakawa, Fumiyuki Yamasaki, Satoshi Okada, Eiso Hiyama   +8 more
wiley   +1 more source

Prevalence of Dental Anomalies in Adult Orthodontic Patients with Oral Radiological Point: A Systematic Review

Sudan Journal of Medical Sciences
Background: Dental rosy anomalies, although not a disease, can impact a person’s quality of life. This study investigates irregularities in the teeth, the degree of opening of the edge of the upper and lower teeth, and pink dental anomalies in the ...
Samareh Abbassi, Neda Tajbakhsh
doaj   +1 more source

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Dental number anomalies

, 2022
Introduction. Dental number anomalies are a part of dental system anomalies, represented by hypodontics and hyperdontics. Dental number anomalies are one of the most important problems of dentistry, because the frequency of patients with these pathologies continues to rise up.
openaire   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source