Results 31 to 40 of about 38,765 (271)

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Association of cervical vertrebra anomalies with cleft lip and palate

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2014
Introduction: The aim of the present study was to evaluate the developmental relationship in the vertebral column in the cervical region and to relate its association in patient′s with cleft lip and palate.
Mudita Srivastava, Anshul Aggarwal, Puneet Batra, Sangeev Datana, Prasanna Kumar, Klara Agneta Macrcusson   +5 more
doaj   +1 more source

Synapsids and sensitivity: Broad survey of tetrapod trigeminal canal morphology supports an evolutionary trend of increasing facial tactile specialization in the mammal lineage

The Anatomical Record, EarlyView.
Abstract The trigeminus nerve (cranial nerve V) is a large and significant conduit of sensory information from the face to the brain, with its three branches extending over the head to innervate a wide variety of integumentary sensory receptors, primarily tactile.
Juri A. Miyamae, Julien Benoit, Irina Ruf, Zoleka Sibiya, Bhart‐Anjan S. Bhullar   +4 more
wiley   +1 more source

Discovery of sexual dimorphism of the laryngeal sac in the common minke whale Balaenoptera acutorostrata

The Anatomical Record, EarlyView.
Abstract Mysticetes, or baleen whales, have an air sac on the ventral surface of the larynx known as the “laryngeal sac.” The primary hypothesis regarding this structure's function is that it is involved in sound production. However, several other functions have been proposed, including air recycling, air storage, and even buoyancy control.
Gen Nakamura, Hiroko Yamada, Ayumi Hirose, Hikari Maeda, Joy S. Reidenberg, Hidehiro Kato, Shinho Park, Yoshihiro Fujise   +7 more
wiley   +1 more source

Comparison of two different secondary rhinoplasties in patients with complete unilateral cleft lip and palate

BMC Surgery
Background The purpose of this study was to analysis the nostril symmetry and nasal stability following secondary rhinoplasty performed with either nasal septal cartilage implantation (G1) or simple alar cartilage suspension and internal fixation (G2) in
Shuxia Dong, Yulang Xu, Ni Zeng, Chenghao Li, Yang Li, Yan Wang, Bing Shi, Qian Zheng   +7 more
doaj   +1 more source

Description of the skull, braincase, and dentition of Moschognathus whaitsi (Dinocephalia, Tapinocephalia), and its palaeobiological and behavioral implications

The Anatomical Record, EarlyView.
Abstract A subadult Moschognathus whaitsi from the Eastern Cape Province, South Africa, was scanned using synchrotron radiation X‐ray computed tomography (SRXCT). Its subadult state allowed the cranial bones and teeth to be identified and individually reconstructed in 3D.
Tristen Lafferty, Luke A. Norton, Aliénor Duhamel, Julien Benoit   +3 more
wiley   +1 more source

Pilot epidemiological study of cleft lip and/or palate inh Kota Kinabalu, Sabah

Asian Journal of Medical Sciences, 2013
Objective: To identify number of cases and the type of cleft lip and/or palate managed in government tertiary center (Queen Elizabeth Hospital) in Kota Kinabalu; and to analyze the associative factors of cleft lip and/or palate.
Chai Siew Cheng
doaj   +1 more source

THE INFLUENCE OF CLEFT LIP AND PALATE SEVERITY ON SURGICAL OUTCOMES

Jurnal Rekonstruksi dan Estetik, 2023
Highlights: • The severity of unilateral CLP was assessed by categorizing preoperative photo data based on the severity of the cleft, and this severity was then correlated with the surgical outcomes. • The way wounds heal is influenced by the width of
Ruby Riana Asparini, Nur Khalida Zia, Bragastio Sidharta, Jeyasree Sakthivel, Bhuvana Sri Naga   +4 more
doaj   +1 more source

Genetics of cleft lip and cleft palate [PDF]

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2013
AbstractOrofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to
Elizabeth J. Leslie, Mary L. Marazita
openaire   +3 more sources

New craniodental materials of Falcarius utahensis (Theropoda: Therizinosauria) reveal patterns of intraspecific variation and cranial evolution in early coelurosaurians

The Anatomical Record, EarlyView.
Abstract Despite documented ecomorphological shifts toward an herbivorous diet in several coelurosaurian lineages, the evolutionary tempo and mode of these changes remain poorly understood, hampered by sparse cranial materials for early representatives of major clades. This is particularly true for Therizinosauria, with representative crania best known
William J. Freimuth, Lindsay E. Zanno
wiley   +1 more source