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Genetics of cleft lip and cleft palate
Orofacial 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 …
as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with …
The genetics of isolated orofacial clefts: from genotypes to subphenotypes
A Jugessur, PG Farlie, N Kilpatrick - Oral diseases, 2009 - Wiley Online Library
Orofacial clefts are the most common craniofacial birth defects and one of the most common
congenital malformations in humans. They require complex multidisciplinary treatment and …
congenital malformations in humans. They require complex multidisciplinary treatment and …
Characterising the loss-of-function impact of 5'untranslated region variants in 15,708 individuals
Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein
translation. Isolated reports have shown that variants that create or disrupt uORFs can cause …
translation. Isolated reports have shown that variants that create or disrupt uORFs can cause …
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development
Mutations in interferon regulatory factor 6 (IRF6) account for∼ 70% of cases of Van der
Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 …
Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 …
Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models
Diverse signaling cues and attendant proteins work together during organogenesis,
including craniofacial development. Lip and palate formation starts as early as the fourth …
including craniofacial development. Lip and palate formation starts as early as the fourth …
Genetics of syndromic and nonsyndromic cleft lip and palate
L Stuppia, M Capogreco, G Marzo… - Journal of …, 2011 - journals.lww.com
Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital
malformations in Western countries. Based on their association with specific malformative …
malformations in Western countries. Based on their association with specific malformative …
Skeletal malocclusion: a developmental disorder with a life-long morbidity
N Joshi, AM Hamdan… - Journal of clinical …, 2014 - pmc.ncbi.nlm.nih.gov
The likelihood of birth defects in orofacial tissues is high due to the structural and
developmental complexity of the face and the susceptibility to intrinsic and extrinsic …
developmental complexity of the face and the susceptibility to intrinsic and extrinsic …
Programmed RNA editing with an evolved bacterial adenosine deaminase
Programmed RNA editing presents an attractive therapeutic strategy for genetic disease. In
this study, we developed bacterial deaminase-enabled recoding of RNA (DECOR), which …
this study, we developed bacterial deaminase-enabled recoding of RNA (DECOR), which …
Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice
HA Thomason, H Zhou, EN Kouwenhoven… - The Journal of clinical …, 2010 - jci.org
Cleft palate is a common congenital disorder that affects up to 1 in 2,500 live human births
and results in considerable morbidity to affected individuals and their families. The etiology …
and results in considerable morbidity to affected individuals and their families. The etiology …
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Tooth agenesis and orofacial clefts represent the most common developmental anomalies
and their co-occurrence is often reported in patients as well in animal models. The aim of the …
and their co-occurrence is often reported in patients as well in animal models. The aim of the …