Results 91 to 100 of about 406,691 (285)

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy.
Liangcheng Wang, Yasushi Takai, Kazunori Baba, Yukiko Mikami, Masahiro Saito, Isao Horiuchi, Ryo Konno, Kenjiro Takagi, Hiroyuki Seki   +8 more
doaj   +1 more source

Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound

Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the ...
Rajesh Kumar Mishra, Ranjit Singh Lahel, Sangeet Kumar   +2 more
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

Bresek Syndrome

Pediatric Neurology Briefs, 1997
Two half brothers with a new syndrome of brain anomalies, retardation, ectodermal dysplasia with alopecia, skeletal malformations, ear abnormalities, and kidney dysplasia (BRESEK) are reported from the University of Minnesota, Minneapolis.
J Gordon Millichap
doaj   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

An Analysis of CT‐Guided Percutaneous Core Needle Biopsy of Tibial Lesions: How Successful Are We?

Journal of Surgical Oncology, EarlyView.
ABSTRACT Background and Objectives Core needle biopsy (CNB) is commonly used to diagnose bone tumors, but characteristics of tibial lesions may affect its diagnostic performance. We evaluated the diagnostic performance of CT‐guided CNB for tibial lesions, factors associated with diagnostic success, and outcomes of nondiagnostic biopsies.
Lauren E. Wessel, Mikayla R. Mefford, Durga Ghosh, Scott D. Nelson, Alexander B. Christ, Michael Russell, Nicholas M. Bernthal, Joseph K. Kendal   +7 more
wiley   +1 more source

A Novel Finding of Type V Osteogenesis Imperfecta: A Distinctive Pattern of Hip Dysfunction

, 2019
Introduction: In 2000, Glorieux et al. described a novel type of osteogenesis imperfecta (OI). Albeit resemblance with type IV in terms of severity, distinguishing radiological features including post-fracture hyperplastic callus (HPC), calcification of ...
Wong, J, To, MKT
core  

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Orphanet Journal of Rare Diseases, 2019
Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features
Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins   +20 more
doaj   +1 more source