Results 111 to 120 of about 447,031 (304)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

The Evaluatıon Of Relatıonshıp Of Mandıbular Thırd Molar Wıth Skeletal Maturıty And Chronologıcal Age

Turkish Journal of Orthodontics, 1997
To evaluate the relationship of mandible third molar, chronological age and skeletal maturity, this study was done an 250 individuals with 10-24 years old. A correlation was observed between chronological age, skeletal maturity and mandibular third molar.
Jalan Devecioğlu Kama, Orhan Hamamcı, Semra Özer   +2 more
doaj   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Establishment of a mouse model of propylthiouracil‐induced antineutrophil cytoplasmic antibody‐associated vasculitis

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract summarizes our study in which we established a novel murine model of antineutrophil cytoplasmic antibody (ANCA)‐associated vasculitis. Neutrophil recruitment was induced using thioglycolate, followed by timed administration of propylthiouracil and phorbol 12‐myristate 13‐acetate to generate DNase I‐resistant neutrophil ...
Sakiko Masuda, Momo Uchizawa, Chihiro Terasaka, Takumi Abe, Tetsuro Nakamura, Yuka Nishibata, Yusho Ueda, Daigo Nakazawa, Utano Tomaru, Akihiro Ishizu   +9 more
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Pitch range and vowel duration in the speech of children with Williams syndrome [PDF]

, 2007
This paper reports the pitch range and vowel duration data from a group of children with Williams syndrome (WS) in comparison with a group of typically developing children matched for chronological age (CA) and a group matched for receptive language
Moreland, Matthew Luke, Setter, Jane Elizabeth, Stojanovik, Vesna, Van Ewijk, Lizet   +3 more
core  

Chronological Diagnostic Algorithm Predicting Neuropathology in Parkinsonism

Annals of Neurology, EarlyView.
Objective Pre‐mortem diagnosis of parkinsonism is often challenging due to atypical presentations, overlapping syndromes, and co‐pathologies. This study aimed to develop a machine learning‐based algorithm predicting neuropathology in parkinsonism using chronological clinical presentations, which has previously been underexplored.
Daisuke Ono, Hiroaki Sekiya, Alexia R. Maier, Neill R. Graff‐Radford, Zbigniew K. Wszolek, Dennis W. Dickson   +5 more
wiley   +1 more source

DNA Methylation Analysis Validates Organoids as a Viable Model for Studying Human Intestinal Aging. [PDF]

, 2020
Background & aimsThe epithelia of the intestine and colon turn over rapidly and are maintained by adult stem cells at the base of crypts. Although the small intestine and colon have distinct, well-characterized physiological functions, it remains ...
Coppola, Giovanni, Horvath, Steve, Jones, D Leanne, Lewis, Sophia K, Martin, Martin G, Nachun, Daniel   +5 more
core  

Temporal Modeling of Amyloid and Tau Trajectories in Alzheimer's Disease Using PET and Plasma Biomarkers

Annals of Neurology, EarlyView.
Objective This study aimed to compare positron emission tomography (PET) and plasma‐based temporal modeling of amyloid and tau biomarkers in Alzheimer's disease. Methods Longitudinal amyloid PET (n = 1,097, mean age ± SD = 72.5 ± 7.38 year, 51.4% male), 18F‐flortaucipir tau‐PET (n = 230, 74.3 ± 7.18 year, 52.2% female), and Fujirebio Lumipulse plasma p‐
Christopher A. Brown, Katheryn A.Q. Cousins, Magdalena Korecka, Emily McGrew, Alice Chen‐Plotkin, John A. Detre, Corey T. McMillan, Edward B. Lee, Sandhitsu R. Das, Dawn Mechanic‐Hamilton, Paul A. Yushkevich, Ilya M. Nasrallah, Leslie M. Shaw, for the Alzheimer's Disease Neuroimaging Initiative, David A. Wolk   +14 more
wiley   +1 more source

The Accuracy of Age Estimation Using Transition Analysis in the Hamann-Todd Collection [PDF]

, 2020
Trying to reconstruct the demographic parameters of past populations using skeletal data is challenging for several reasons. First, skeletal traits are proxy to biological age, which does not always reflect chronological age.
Simon, Allyson
core