Results 71 to 80 of about 500 (134)

Additional file 1 of Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly

Supplementary Material ...
Lyulcheva-Bennett, Ekaterina, Kershaw, Christopher, Baker, Eleanor, Gillies, Stuart, McCarthy, Emma, Higgs, Jenny, Canham, Natalie, Hennigan, Dawn, Parks, Chris, Bennett, Daimark   +9 more
openaire   +1 more source

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma [PDF]

PURPOSE: A molecular diagnosis is only made in a subset of individuals with nonisolated microphthalmia, anophthalmia, and coloboma (MAC). This may be due to underutilization of clinical (whole) exome sequencing (cES) and an incomplete understanding of ...
Agopian, A J, Brooks, Brian P, Hufnagel, Robert B, Kunisetty, Bhavana, Luna, Pamela N, Lupo, Philip J, Martin-Giacalone, Bailey A, Rosenfeld, Jill A, Scott, Daryl A, Shaw, Chad A, Zhao, Xiaonan   +10 more
core   +3 more sources

Prenatal Ultrasound and Genetic Diagnosis of EFTUD2 Haploinsufficiency in Two Fetuses: A Case Series

The Application of Clinical Genetics
Agata Kucińska,1 Lech Dudarewicz,1 Beata Anna Nowakowska,2 Maciej Geremek,2 Urszula Wysocka,1 Łukasz Przesór,1 Dobromiła Barańska,3 Piotr Grzelak,3 Agnieszka Gach1 1Department of Genetics, Polish Mother’s ...
Kucińska A, Dudarewicz L, Nowakowska BA, Geremek M, Wysocka U, Przesór Ł, Barańska D, Grzelak P, Gach A   +8 more
doaj  

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. [PDF]

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly ...

core   +1 more source

RFC2 May Contribute to the Pathogenicity of Williams Syndrome Revealed in a Zebrafish Model [PDF]

Williams syndrome (WS) is a rare multisystemic disorder caused by recurrent microdeletions on 7q11.23, characterized by intellectual disability, distinctive craniofacial and dental features, and cardiovascular problems. Previous studies have explored the
Cheon, Chong Kun, Choi, Tae-Ik, Don, Dilan Wellalage, George-Abraham, Jaya K, Kim, Cheol-Hee, Kim, Tae Hyeong, Kim, Tae-Yoon, Kim, Yoo-Mi, Lee, Yoonsung, Lee, Yu-Ri, Liu, Pengfei, Park, Ji-Won, Petit, Florence, Robak, Laurie A, Rosenfeld, Jill A, Trandafir, Cristina C   +15 more
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Treacher-Collins syndrome [PDF]

INTRODUCTION- Treacher Collins syndrome (TCS) is a rare syndrome inherited as autosomal dominant. The affected children may vary in severity ranging from minimal features as slanting of palpebral fissures to major features of craniofacial ...
Kumar , PD, Kumari , CK, Sarella, LK
core   +1 more source

Towards consensus on the treatment of congenital craniofacial conditions [PDF]

Dit proefschrift richt zich op het verbeteren van de multidisciplinaire zorg voor zeldzame craniofaciale aandoeningen, met specifieke aandacht voor unilaterale schisis (UCLP), het Treacher Collins-syndroom (TCS) en het Miller-syndroom.
van Roey, Victor
core  

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

, 2023
Brusco, Alfredo, Ferrero, Giovanni B
core   +2 more sources

Investigating the emerging role of spliceosomal variants in craniofacial developmental disorders [PDF]

, 2021
Wood, Katherine
core  

The roles of RNA Polymerase I and III subunits Polr1a, Polr1c, and Polr1d in craniofacial development [PDF]

, 2016
Craniofacial anomalies account for approximately one-third of all birth defects. Two examples of syndromes associated with craniofacial malformations are Treacher Collins syndrome and Acrofacial Dysostosis, Cincinnati type which have phenotypic overlap ...
Watt, Kristin
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