Results 51 to 60 of about 316,216 (289)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Sexual Dimorphism in Estimated Stature from Long Bones in Gilimanuk, Semawang, Plawangan, and Recent Sample in Indonesia

Anthropological Review
The study of sexual dimorphism among ancient skeletons can provide information on community health in the past. Meanwhile, the younger geological age of skeletal remains from Gilimanuk, Semawang, and Plawangan have received little attention.
Janatin Hastuti, Ashwin Prayudi, Neni Trilusiana Rahmawati, Noorman Hendry Fauzi, Rusyad Adi Suriyanto   +4 more
doaj   +1 more source

A clinical correlation between stature and posterior tooth length

The Pan African Medical Journal, 2017
INTRODUCTION: exploration and determination of the relationship between stature and length of tooth is essential in Paleontology, Forensic Odontology and Endodontology.
Smitha Reddy, Bhuvan Shome, Jayaprakash Patil, PradeepKoppolu   +3 more
doaj   +1 more source

Gender ideology, same-sex peer group affiliation and the relationship between testosterone and dominance in adolescent boys and girls [PDF]

, 2010
Although the role of testosterone in the aetiology of social dominance is often suggested, surprisingly few studies have addressed the relationship between sex steroid hormones and dominance as a personality trait. In this paper, the relationship between
Kaufman, Jean, T'Sjoen, Guy, Van Houtte, Mieke, Vermeersch, Hans, Vincke, Johny   +4 more
core   +2 more sources

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source

Human Stature Estimation Using Cranial and Mandibular Measurements

Forensic Sciences
Background: In forensic anthropology, estimating stature is an essential part of constructing the biological profile of unknown individuals. While long bones are typically used for this purpose, they are often missing or incomplete in forensic contexts ...
Maria João Couto, Áurea Madureira-Carvalho, Inês Morais Caldas   +2 more
doaj   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source

Cleidocranial dysplasia associated with dentigerous cyst—review of literature and case report of two siblings

Indian Journal of Pathology and Microbiology
Cleidocranial dysplasia (CCD) is a developmental anomaly of the skeleton and teeth which may be inherited, be transmitted as dominant characteristics in either male or female or even appear spontaneously.
Nandini Bhardwaj, Abhiney Puri, Vijay Wadhwan, Monika Gupta   +3 more
doaj   +1 more source

Stature Prediction using Shoe Print Dimensions of an Adult Nigerian Population

Arab Journal of Forensic Sciences & Forensic Medicine, 2019
This study aimed to derive predictive equations for stature estimation using shoe print dimensions of adult Nigerian medical students in the University of Lagos.
Emeka A Okubike, Michael E Nandi, Euphemia C Iheaza,, Obun C. Obun   +3 more
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source