The identification and characterisation of disease genes in craniosynostosis

The identification and characterisation of disease genes in craniosynostosis

<p>Current challenges to the understanding and clinical management of craniosynostosis (premature fusion of the cranial sutures) include the interpretation of changes in known disease genes, the identification of novel disease genes and the identification of pathogenic regulatory mutations. Th...

Fuld beskrivelse

Bibliografiske detaljer
Hovedforfatter:	Fenwick, AL
Andre forfattere:	Wilkie, AOM
Format:	Thesis
Sprog:	English
Udgivet:	2015
Fag:	Medical genetics Craniosynostoses Human genetics

Lignende værker

The clinical management of craniosynostosis /
af: Hayward, Richard
Udgivet: (2004)

Pembangunan sistem perolehan imej fotogrametri digital jarak dekat bagi pengukuran craniofacial /
af: Mohd. Farid Mohd. Ariff
Udgivet: (2005)

Pembangunan sistem perolehan imej fotogrametri digital jarak dekat bagi pengukuran craniofacial [compact disc] /
af: Mohd. Farid Mohd. Ariff
Udgivet: (2005)

Non-syndromic craniosynostosis: a retrospective analysis
af: Murilo Sgarbi Secanho, et al.
Udgivet: (2020-12-01)

Correction of maxillofacial deformities in a patient with unilateral coronal craniosynostosis (plagiocephaly): a case report and a review of literatures.
af: Mansour Khorasani, et al.
Udgivet: (2013-10-01)

Evaluation of Low-Dose 3D Skull CT Images in Craniosynostosis
af: Fariba Zarei, et al.
Udgivet: (2022-07-01)

Volumetric lipoinjection of the fronto-orbital and temporal complex with adipose stem cells for the aesthetic restoration of sequelae of craniosynostosis
af: Yanko Castro-Govea, et al.
Udgivet: (2018-03-01)

Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis
af: Erica M. Siismets, et al.
Udgivet: (2020-09-01)

Characterising structural variants in patients with craniosynostosis using short-read and long-range technologies
af: Pei, Y
Udgivet: (2024)

Identification and functional validation of pathogenic small nucleotide variants in patients with craniosynostosis
af: Tooze, RS
Udgivet: (2023)

Advanced parental age: Is it contributing to an increased incidence of non-syndromic craniosynostosis? A review of case-control studies
af: Kenzy Abdelhamid, et al.
Udgivet: (2021-01-01)

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure.
af: Bendon, C, et al.
Udgivet: (2012)

The Influence of Perioperative Antibiotic Prophylaxis on Wound Infection and on the Colonization of Wound Drains in Patients After Correction of Craniosynostosis
af: Johannes Holle, et al.
Udgivet: (2021-08-01)

Nautilus: craniotomia dinâmica - nova técnica cirúrgica e resultados preliminares
af: Vera Lucia Nocchi Cardim, et al.

Perbandingan di antara penghasilan model digital tiga dimensi dan model fizikal bagi craniofacial tisu keras /
af: 414732 Zakiah Abdul Majid @ Zakaria, et al.
Udgivet: (2007)

Pengesanan kecacatan craniofacial berdasarkan reka bentuk templat titik craniofacial /
af: 322314 Zie Zie Azeanty Mohamed Tahir
Udgivet: (2007)

Perbandingan di antara penghasilan model digital tiga dimensi dan model fizikal bagi craniofacial tisu keras [electronic resource] /
af: 414732 Zakiah Abdul Majid @ Zakaria, et al.
Udgivet: (2007)

Pengesanan kecacatan craniofacial berdasarkan reka bentuk templat titik craniofacial [electronic resource] /
af: 322314 Zie Zie Azeanty Mohamed Tahir
Udgivet: (2007)

Dexmedetomidine as an Opioid-Sparing Agent in Pediatric Craniofacial Surgery
af: Srijaya K. Reddy, et al.
Udgivet: (2020-07-01)

Idade e indicações de osteotomias para avanço frontofacial em pacientes com craniossinostoses sindrômicas Age and indications for osteotomy for frontofacial advancement in patients with syndromic craniosynostosis
af: Nivaldo Alonso, et al.
Udgivet: (2012-06-01)

Genetics and pathophysiology of coronal craniosynostosis revealed by next-generation DNA sequencing
af: Sharma, V
Udgivet: (2015)

Clinical orthoptics /
af: Rowe, Fiona J.
Udgivet: (2012)

Fibroblast Growth Factor (FGF) Receptor Mutations: A Pathway to Understanding Multigenic Risk in Disease?
af: Stuart J. Mires
Udgivet: (2013-12-01)

Cephalic Index of Korean Children With Normal Brain Development During the First 7 Years of Life Based on Computed Tomography
af: Heesung Nam, et al.
Udgivet: (2021-04-01)

Genes in medicine : molecular biology and human genetic disorders /
af: 395896 Rasko, Istvan, et al.
Udgivet: (1995)

Debating human genetics : contemporary issues in public policy and ethics /
af: 510267 Plows, Alexandra
Udgivet: (c201)

Inheritance : how our genes change our lives /
af: 299867 Moalem, Sharon author, et al.
Udgivet: (2014)

The identification and characterisation of germline genetic variants that affect human cancer
af: Zeron-Medina Cuairan, J
Udgivet: (2013)

Human genetics and genomics /
af: Korf, Bruce R., et al.
Udgivet: (2013)

Estudo antropométrico das assimetrias craniofaciais na craniossinostose coronal unilateral Anthropometric study of craniofacial asymmetry in unilateral coronal synostosis
af: Cassio Eduardo Raposo-do-Amaral, et al.
Udgivet: (2011-03-01)

Efficacy of endoscopic strip craniectomy for sagittal synostosis
af: WEI Min, et al.
Udgivet: (2023-07-01)

Apert Syndrome: Report of a Case with Emphasis on Oral Manifestations
af: B. Vadiati Saberi, et al.
Udgivet: (2011-06-01)

Plagiocefalia frontal sinostósica: Resultados del tratamiento quirúrgico
af: Ricardo Hodelín Tablada, et al.
Udgivet: (1996-12-01)

Genes and common diseases /
af: 294473 Wright, Alan, et al.
Udgivet: (2007)

Human genetics : proceedings /
af: International Congress of Human Genetics (5th : 1976 : Mexico), et al.
Udgivet: (1977)

Identification of novel disease-causing genes in inherited retinal dystrophy
af: Merepa, SS
Udgivet: (2021)

Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature
af: Mina Yazdizadeh, et al.
Udgivet: (2023-01-01)

The gene, the clinic, and the family : diagnosing dysmorphology, reviving medical dominance /
af: Latimer, Joanna
Udgivet: (2013)

Genetics & society /
af: 292617 Holland, Barry, et al.
Udgivet: (1993)

Identification of novel genes involved in brain abnormality syndromes using next generation sequencing
af: Howard, M, et al.
Udgivet: (2014)