Results 81 to 90 of about 316,216 (289)

Truncation of POC1A associated with short stature and extreme insulin resistance [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +3 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Outer and Inner Canthal Distances and their Stature Estimation Potentials among Nigerian Igbos and Ibibios Residing in Rivers State, Nigeria

Anthropological Review
Both inner (ICD) and outer canthal distances (OCD) are some examples of facial parameters often applicable in forensic anthropology as these differ among ancestries.
Gabriel Sunday Oladipo, Emmanuel Afolabi, Bukola Blessing Johnson, Oghenefego Michael Adheke   +3 more
doaj   +1 more source

European Heights in the Early 18th Century [PDF]

, 2005
We estimate the height of various European populations in the first half of the 18th century. English and Irish male heights are estimated at c. 65 inches (165 cm), and c. 66 inches (168 cm) respectively.
Cinnirella, Francesco, Komlos, John
core   +2 more sources

War and Stature: Growing Up During the Nigerian Civil War [PDF]

The Nigerian civil war of 1967-70 was precipitated by secession of the Igbo-dominated south-eastern region to create the state of Biafra. It was the first civil war in Africa, the predecessor of many.
Marinella Leone, Richard Akresh, Sonia Bhalotra, Una Osili   +3 more
core   +3 more sources

Study of the Stature Structure of 10-12 Years Old Female Students in Selected Elementary Schools in Tehran

Journal of Client-centered Nursing Care, 2016
Background: One of the common problems in early adolescence is skeletal disorders which has an international dimension to the extent that structural and postural abnormalities screening programs are in schools agenda in different countries for years ...
Leili Borimnejad, Nahid Salmanyazdi, Hamid Haghani   +2 more
doaj  

Black and White Labor Market Outcomes in the 19th Century American South [PDF]

Modern labor studies consider the relationship between wages and biological markers. A relevant historical question is the relationship between occupational status and biological markers.
Scott A. Carson
core  

Demographic, residential, and socioeconomic effects on the distribution of 19th century US white statures [PDF]

, 2009
Using a source of 19th century US state prison records, this study addresses European-American stature variation. The most commonly cited sources for stature variation are diets, disease, and work effort.
Carson, Scott Alan
core  

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

The Correlation of Tooth Sizes and Jaw Dimensions with Biological Sex and Stature in a Contemporary Central European Population

Biology
Dental anthropology provides a deep insight into biological, ecological and cultural aspects associated with human individuality, behaviour and living conditions and the environment.
Kurt W. Alt, Nils Honrath, Maximilian Weykamp, Peter Grönebaum, Nicole Nicklisch, Werner Vach   +5 more
doaj   +1 more source