Results 131 to 140 of about 334,163 (380)

Expanding the Clinical Spectrum of Cousin Syndrome: A Novel Biallelic Missense Variant in TBX15 Causing a Milder Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cousin syndrome is a rare skeletal dysplasia characterized by distinctive facial features, humeroradial synostosis, and hypoplasia of the ilia and scapula. Since the original description of the phenotype in two cases by Cousin in 1982, only three additional cases have been published.
Suzanne E. L. Detiger, Martijn V. Verhagen, Tuula Rinne, Hermine E. Veenstra‐Knol   +3 more
wiley   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori, Steven Estes, Swetha Ramadesikan, Betsy Schmalz, Shayne Plourde, Maria E. Hernandez Gonzalez, Anthony R. Miller, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +9 more
wiley   +1 more source

Orthodontic Treatment of Dentofacial Deformities [PDF]

, 2003
Međučeljusni nesklad stvara velike probleme pacijentima i estetski i funkcionalno. Razlog dolaska pacijenata u Kliniku uglavnom je estetske naravi, jer se radi o mlađim osobama, a funkicionalne su smjetnje u drugome planu. Uzimanje hrane, govor i disanje
Davor Jokić, M. Milić, Predrag Knežević, Vedran Uglešić   +3 more
core   +1 more source

Promise, Pitfalls, and Precision: Standardizing Clinical Framework for Hereditary Hemorrhagic Telangiectasia and a Call for Cost‐Conscious Innovation

American Journal of Hematology, EarlyView.
Magdalena Lewandowska
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Saddle nose deformity: a rare complication of COVID-19 infection

, 2022
Daniel Zhu, Tristan Tham, Alexandros Georgolios   +2 more
openalex   +1 more source

Prevalence of Venous Sinus Stenosis in Spontaneous Cerebrospinal Fluid Leak and the Role for Venous Sinus Stenting: A Systematic Review and Meta‐Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Given the association between spontaneous cerebrospinal fluid (sCSF) leak and idiopathic intracranial hypertension (IIH), and the association of IIH and venous sinus stenosis (VSS), we sought to determine the prevalence of VSS in sCSF leak and the role of venous sinus stenting for sCSF leak.
Jenny B. Xiao, Carlos Khalil, Helen Hsiao, Janiss Skulsampaopol, Daniel J. Lee, Michael D. Cusimano, John M. Lee   +6 more
wiley   +1 more source

Reconstruction of Severe Burn Scar Deformities on the Distal Nose and Philtrum

, 2022
Ji Hoon Kim, Chang Eun Chung, Chong Kun Lee, Dong Chul Kim   +3 more
openalex   +2 more sources

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson, John M. Graham Jr, Natalie D. Shaw   +2 more
wiley   +1 more source

Comparative analysis of short‐term and long‐term LL‐37‐induced rosacea‐like mouse models: Histopathological features and inflammatory immune responses

Animal Models and Experimental Medicine, EarlyView.
The aim of this study was to improve the long‐term LL‐37 mouse model and compare the disease manifestations and pathophysiology of short‐term and long‐term LL‐37‐induced rosacea‐like models. The results show that the long‐term LL‐37 induced mouse model provides a practical animal model for further study of the pathological mechanism of severe rosacea ...
Yiling Wu, Chuanxi Zhang, Hui Jin, Ruiping Zheng, Tian Li, Fuyu Jin, Yaqian Li, Xuemin Gao, Hong Xu, Zhongqiu Wei, Jie Yang   +10 more
wiley   +1 more source