Results 71 to 80 of about 3,414,711 (270)

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Short stature and Helicobacter pylori infection in Italian children: prospective multicentre hospital based case–control study. (I.F. 5.143)

, 1998
Helicobacter pylori is mainly acquired in childhood,1 but the diseases associated with such infection remain unknown. Scottish and Italian schoolchildren infected with H pylori showed reduced growth in height,2,3 and H pylori gastritis was found in 55 ...
E. Chiorboli, G. Bona, DE ANGELIS, Gian Luigi, on behalf of the Italian Study Group on Short Stature end H. Pylori, C. Saieva, D. Palli, G. Oderda   +6 more
core  

Over the edge: Empirical evidence for the cliff‐edge model of obstetric selection

The Anatomical Record, EarlyView.
Abstract The cliff‐edge model of obstetric selection maintains that larger neonates and smaller birth canals confer a positive selective advantage until labor becomes obstructed and vaginal delivery is no longer possible, eliciting an abrupt reduction in fitness.
Laura M. Watson, Pierre Frémondière, Kaspar Staub, Philipp Mitteroecker, Barbara Fischer, Martin Haeusler, Nicole M. Webb   +6 more
wiley   +1 more source

The 9+ month marathon: How pregnancy may have shaped human endurance capacities

The Anatomical Record, EarlyView.
Abstract Anthropology has long considered the evolution of our uniquely human endurance capacities to be the result of selection upon anatomical and physiological features imposed by the demands of thermoregulation and resource acquisition, particularly during the demands of persistence hunting. Research has focused on the anatomical changes present in
Cara Ocobock
wiley   +1 more source

Tall stature: a difficult diagnosis?

Italian Journal of Pediatrics, 2017
Referral for an assessment of tall stature is less common than for short stature. Tall stature is defined as a height more than two standard deviations above the mean for age.
Cristina Meazza, Chiara Gertosio, Roberta Giacchero, Sara Pagani, Mauro Bozzola   +4 more
doaj   +1 more source

Idiopathic short stature. Is it a disease? [PDF]

, 2014
This bachelor thesis is focused on idiopathic short stature. Idiopathic short stature can be found a tup to 80% of children, who suffer from growth disorders. I tis a short stature without definite reasons.
Šneberková, Klára
core  

Developmental differences in cortical bone structure in chimpanzee and human femora reflect early locomotor independence in humans

The Anatomical Record, EarlyView.
Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan, Rachel Ives, Zewdi J. Tsegai, Louise T. Humphrey   +3 more
wiley   +1 more source

The “costly son” hypothesis: Sons exacerbate obstetrical dilemmas in humans and other mammals

The Anatomical Record, EarlyView.
Abstract Human childbirth has often been considered uniquely difficult among mammals, yet recent evidence suggests that obstructed labor and fetopelvic disproportion are widespread across placental mammals. Here, we propose the “costly son” hypothesis: because male offspring are typically larger at birth, they impose greater obstetric risk on mothers ...
Nicole D. S. Grunstra, Jonathan C. K. Wells   +1 more
wiley   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source