Results 91 to 100 of about 50,330 (260)
Van der Woude syndrome: A review of 11 cases seen at the Lagos University Teaching Hospital
African Journal of Paediatric Surgery, 2014 Background: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene.
Olutayo James +5 more
doaj +1 more source
Role of bone graft materials for cleft lip and palate patients: A systematic review [PDF]
, 1992 Cleft lip and palate is a congenital anomaly. Its management requires a long term commitment, multidisciplinary and structured treatment. Treatment is initiated at infancy and continues till adolescence.
Wahaj, Aiyesha +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
, 2019 Objectives: To investigate to what extent middle ear problems and associated hearing loss affect quality of life (QoL) of children born with a cleft palate. Methods: Fifty-five children aged between 6 and 18 years, born with non-syndromic cleft palate +/
De Leenheer, Els +4 more
core +2 more sources
Local expression of inflammatory cytokines in the facial tissue of children with a cleft lip and palate [PDF]
, 2012 The cleft lip and/or palate are among the most common congenital anomalies that occur in early development. Cytokines play an important role in the proliferation, growth, differentiation, survival and the functional activity of many cells and the ...
Akota, Ilze, Pilmane, Mara, Smane, Liene
core +3 more sources
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
International Journal of General MedicineHanyi Jiang,1,* Zhiwei Chen,2,* Wenkang Luan,3,* Jia Li,4 Ningbei Yin1 1Department of Cleft Lip and Palate, Plastic Surgery Hospital (Institute), Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing ...
Jiang H, Chen Z, Luan W, Li J, Yin N
doaj
Maternal risk factors for oral clefts: A case-control study [PDF]
, 2012 Introduction: A cleft lip with or without a cleft palate is one of the major congenital anomalies observed in newborns. This study explored the risk factors for oral clefts in Gorgan, Northern Iran. Materials and Methods: This hospital-based case-control
Golalipour, M.J. +3 more
core
A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts [PDF]
, 2013 BACKGROUND: Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of transcription factors. It has been suggested to be an important contributor to orofacial development since mutations of the IRF6 gene has been found in Van der Woude (VWS)
Chun-Shin Frank Chang +4 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source