Results 101 to 110 of about 4,755 (272)
CATSHL syndrome, a new family and phenotypic expansion
Clinical Genetics, Volume 105, Issue 3, Page 313-316, March 2024.A novel heterozygous variant of FGFR3 was identified in 2 members of the same family affected by CAmptodactyly – Tall stature – Scoliosis – Hearing Loss (CATSHL) syndrome with some shared features with Lacrimo – Auricolo – Dento – Digital (LADD) syndrome. LADD and CATSHL syndromes could be further evidences of high pleiotropy of FGFR3.
Silvia Cannova +8 more
wiley +1 more source
Studi Struktur dan Pertumbuhan Populasi Kerang Pokea (Batissa Violacea Var. Celebensis, Von Martens 1897) di Sungai Pohara Sulawesi Tenggara [PDF]
, 2015 Pokea merupakan bivalvia air tawar yang hidup di segmen muara. Bivalvia ini terusmengalami tekanan sejalan dengan peningkatan aktivitas kegiatan penangkapan danmenurunnya kualitas perairan.
dan Hari, H, Bahtiar, Hamzah, M
core +3 more sources
Molecular Genetics &Genomic Medicine, Volume 12, Issue 1, January 2024.We ascertained three new MSX1 variants in three unrelated Chinese non‐syndromic oligodontia (NSO) families: one insertion variant (c.576_577insTAG (p. Gln193 *)) and two missense variants (c.871T>C (p.Tyr291His); c.644A>C (p.Gln215Pro)). Immunofluorescence analysis revealed that truncated MSX1 (p. Gln193*) localized in the cytoplasm.
Ya Zhao +6 more
wiley +1 more source
The Incidence of the Tooth Agenesis in Students of Dentistry at Palacký University in Olomouc
Česká Stomatologie a Praktické Zubní Lékařství, 2015 Aim of the study: Tooth agenesis is very often developmental anomaly. The prevalence of this disorder differs depending on several factors. Different results can be observed in populations on different continents, in different races and genders, and in ...
L. Kramerová +3 more
doaj +1 more source
Special Care in Dentistry, Volume 44, Issue 1, Page 96-102, January/February 2024.Abstract Aim Ectrodactyly‐ectodermal dysplasia‐cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands. Prosthetic rehabilitation of patients with EEC syndrome is essential towards improving their overall quality of life. Methods and Results In the case shown,
Gréta Török +6 more
wiley +1 more source
, 2017 The oral cavity is the first component of the digestive tract, which is delimited by the lips anteriorly and the oropharynx posteriorly. The oral cavity functions as a protective barrier and is an essential component for speech and swallowing ...
Burgess, Jeff +6 more
core +1 more source
Bilateral Anterior Shoulder Dislocation [PDF]
, 2014 Introduction: Unilateral anterior shoulder dislocation is one of the most common problems encountered in orthopedic practice. However, simultaneous bilateral anterior dislocation of the shoulders is quite rare. Case Presentation: We report a case of a
Lui, T. H., Siu, Y. C.
core +1 more source
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +1 more source
A serpulid-Anodontia-dominated methane-seep deposit from the upper Miocene of northern Italy
, 2018 A limestone deposit with an unusual fauna is reported from the late Miocene of northern Italy (Ca’ Fornace site). The petrography of the carbonate and its distinct carbon isotope signature (with δ13C values as low as -57.6‰) clearly identify this ...
S. Kiel, M. Sami, M. Taviani
semanticscholar +1 more source
International Journal of Dentistry, Volume 2024, Issue 1, 2024.Obstructive sleep apnea (OSA) syndrome is characterized by repeated airway collapse during sleep. It determines cardiovascular, pulmonary, and neurocognitive consequences and is associated with several daytime and nighttime symptoms that influence the patient’s quality of life. The contribution of the dental specialist in the clinical management of OSA
Antonino Lo Giudice +7 more
wiley +1 more source