Results 251 to 260 of about 13,464 (314)

Burden and characteristics of inherited retinal diseases in China. [PDF]

Sci Rep
Lin Y, Dou X, Li L, Zhou W, Zhang W, Wang L, Wang JZ, Shen Y.   +7 more
europepmc   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Ultrasound pupillometry for the detection of a relative afferent pupillary defect (RAPD): Systematic evaluation in patients with optic neuritis and comparison with infrared video pupillometry. [PDF]

PLoS One
Siebald F, Grittner U, Otto C, Bereuter C, Zimmermann HG, Harms L, Klonner J, Schreiber SJ, Paul F, Ruprecht K, Schmidt FA.   +10 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Pathological, Histochemical and Electrocardiographic Studies of Experimental Myocardial Infarction (II) : MYOCARDIAL AND VASCULAR CHANGES FOLLOWING CORONARY ARTERY CONSTRICTION

Japanese Circulation Journal, 1959
openaire   +2 more sources

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Cardiomyocyte Rac1 signaling in hypertrophy, arrhythmia, and cardiac stress adaptation. [PDF]

J Mol Cell Cardiol Plus
Teuber JP, Scissors RE, Brody MJ.
europepmc   +1 more source

Athlete's Heart Revisited: Historical, Clinical, and Molecular Perspectives. [PDF]

Circ Res
Hsieh PN, Shen S, Chukwurah MI, Churchill TW, Stewart KM, Chung EH, Weiner RB, Li H, Guseh JS.   +8 more
europepmc   +1 more source

Robotic ureteral reconstruction for endometriosis-induced strictures: insights from a multi-institutional experience. [PDF]

World J Urol
Lee M, Saxena S, Zhao K, Dodd C, Lee R, Stifelman M, Zhao L, Eun DD.   +7 more
europepmc   +1 more source

Little Fingers, Big Problems: Understanding Pediatric Trigger Fingers. [PDF]

Cureus
Stanley OC, Kern E, Fisher O, Schwartz G.   +3 more
europepmc   +1 more source