Results 101 to 110 of about 1,815,286 (361)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Radiographic study of patients with ectodermal dysplasia and partial

Indian Journal of Dental Research, 2012
Aim: To investigate the association between gender and type of cleft with hypodontia and to verify if the presence of the cleft interferes with hypodontia of one or more type of teeth in patients with ectodermal dysplasia attending the Hospital for ...
Rafaela Rangel Rosa, Márcia Morato Janeiro, Samira Esteves Afonso Camargo, Carolina de Oliveira Tocalino Walter Porto, Eliane Maria Kreich, João César Guimarães Henriques   +5 more
doaj   +1 more source

Congenital Adrenal Hyperplasia: A Case Report with Premature Teeth Exfoliation and Bone Resorption [PDF]

, 2015
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated ...
Angelopoulou, Matina V., Emmanouil, Dimitris E., Kontogiorgos, Elias D.   +2 more
core   +1 more source

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Influence of Environmental Factors on the Presence and Severity of Molar Incisor Hypomineralization

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2021
Objective: To assess the association between environmental factors during pregnancy and early childhood with the presence and severity of Molar Incisor Hipomineralization (MIH).
Fernanda Mafei Felix da Silva, Fernanda Gabriela de Fatima Vieira, Thais Rodrigues Campos Soares, Flavia Martinez de Carvalho, Alexandre Rezende Vieira, Marcelo de Castro Costa   +5 more
doaj  

A Narrative Review of the Association between Dental Abnormalities and Chemotherapy

Journal of Clinical Medicine
Dental abnormalities are often detected in childhood and are reported to occur with high prevalence in patients who have undergone cancer treatment or chemotherapy.
Tatsuya Akitomo, Yasuko Tsuge, Chieko Mitsuhata, R. Nomura   +3 more
semanticscholar   +1 more source

Recombinant Human Neuregulin1‐β1 Significantly Reduces Schwannoma Growth in Mice

Annals of Neurology, EarlyView.
rhNRGβ1‐Replacement‐Therapy: Under physiological conditions, NRGβ1 is expressed on axons (in orange), where it activates ERBB2 receptors, facilitating successful nerve regeneration following injury. However, loss of NF2 leads to a reduction in NRGβ1‐expression and increased ErbB2 levels on Schwann cells (in green), which contributes to schwannoma ...
Julia P. Bischoff, Alexander Schulz, Christian Hagel, Robert Büttner, Michael Reuter, Waylan K. Bessler, D. Wade Clapp, Helen Morrison   +7 more
wiley   +1 more source

Frequency and Characteristics of Mesiodens in Indian School Children: A Retrospective Radiographic Study

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022
Objective: To determine the frequency and characteristics of mesiodens in Indian school children. Material and Methods: 1232 radiographs of patients attending the Department of Oral Medicine and Radiology of the age group of 4-15 years studied for the ...
Santosh R. Patil, Ravi Kumar Gudipaneni, Ibrahim AlZoubi, Kazuyuki Araki, Krishna A. Rao, Mohammad Khursheed Alam   +5 more
doaj  

Mesiodistal and Buccolingual Dimensions in Croatian Orthodontic Hypodontia Patients‘ Teeth

Acta Stomatologica Croatica, 2018
Objective: This study compared mesiodistal (MD) and buccolingual (BL) tooth dimensions of hypodontia patients with a control group with complete dentition.
Antun Vidaković, Sandra Anić-Milošević, Daša Nikolov Borić, Senka Meštrović   +3 more
doaj   +1 more source

Early synapsids neurosensory diversity revealed by CT and synchrotron scanning

The Anatomical Record, EarlyView.
Abstract Non‐mammaliaform synapsids (NMS) represent the closest relatives of today's mammals among the early amniotes. Exploring their brain and nervous system is key to understanding how mammals evolved. Here, using CT and Synchrotron scanning, we document for the first time three extreme cases of neurosensory and behavioral adaptations that probe ...
J. Benoit, R. Araujo, E. S. Lund, A. Bolton, T. Lafferty, Z. Macungo, V. Fernandez   +6 more
wiley   +1 more source