Cargando…

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans

OBJECTIVE: Split-hand/foot malformation type 1 is an autosomal dominant condition with reduced penetrance and variable expression. We report three individuals from two families with split-hand/split-foot malformation (SHFM) in whom next generation sequencing was performed to investigate the cause of...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2014
Materias:	Chromosomal Rearrangements
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963551/ https://www.ncbi.nlm.nih.gov/pubmed/24459211 http://dx.doi.org/10.1136/jmedgenet-2013-102142

Ejemplares similares

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
por: Kim, Juwon, et al.
Publicado: (2015)

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
por: Begemann, Matthias, et al.
Publicado: (2012)

A novel immunodeficiency syndrome associated with partial trisomy 19p13
por: Seidel, Markus G, et al.
Publicado: (2014)

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions
por: Zhang, Shuo, et al.
Publicado: (2019)

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer
por: Scharf, Florentine, et al.
Publicado: (2022)

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
por: Meinel, Jakob A, et al.
Publicado: (2023)

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
por: Tayebi, Naeimeh, et al.
Publicado: (2014)

An exome sequencing strategy to diagnose lethal autosomal recessive disorders
por: Ellard, Sian, et al.
Publicado: (2015)

7q21.3 Deletion involving enhancer sequences within the gene DYNC1I1 presents with intellectual disability and split hand-split foot malformation with decreased penetrance
por: Delgado, Sara, et al.
Publicado: (2015)

Split cord malformation and the anaesthesiologist
por: Dubey, Prakash K, et al.
Publicado: (2014)

ExceS-A: an exon-centric split aligner
por: Reinhardt, Franziska, et al.
Publicado: (2022)

Ectrodactyly/split hand feet malformation
por: Jindal, Geetanjali, et al.
Publicado: (2009)

MRI Characteristics of Split Cord Malformation
por: Jiblawi, Ahmad, et al.
Publicado: (2021)

Type 1.5 Split Cord Malformations : Bridging the Gap
por: Doddamani, Ramesh, et al.
Publicado: (2022)

Type 1.5 Split Cord Malformations : Bridging the Gap
por: Sun, Mengchun, et al.
Publicado: (2022)

Genetic analysis of a congenital split-hand/split-foot malformation 4 pedigree
por: Yang, Xiao, et al.
Publicado: (2018)

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
por: Sifre-Ruiz, Anna, et al.
Publicado: (2023)

Anterolateral Thoracic Myelomeningocele With Split Cord Malformation
por: Ran, Jessica, et al.
Publicado: (2023)

Incidentally discovered type 1 split cord malformation in an adult patient
por: Assaker, Richard, et al.
Publicado: (2020)

Circular RNA biogenesis can proceed through an exon-containing lariat precursor
por: Barrett, Steven P, et al.
Publicado: (2015)

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
por: Su, Tangfeng, et al.
Publicado: (2022)

Type 1.5 Split Cord Malformation : A New Theory of Pathogenesis
por: Sun, Mengchun, et al.
Publicado: (2022)

Split Cord Malformation Type 1 (Bony Spur) Excision Using Microrongeur
por: Muzumdar, Dattatraya, et al.
Publicado: (2020)

We Are Cautious to Use the Term, ‘Split Cord Malformation Type 1.5’
por: Sun, Mengchun, et al.
Publicado: (2022)

We Are Cautious to Use the Term, ‘Split Cord Malformation Type 1.5’
por: Wang, Kyu-Chang, et al.
Publicado: (2022)

Type 2 split cord malformation: the ‘Martian’ sign
por: Noh, M S F Md, et al.
Publicado: (2017)

Split-hand/feet malformation: A rare syndrome
por: Gane, Bahubali D., et al.
Publicado: (2016)

Genome rearrangements and pervasive meiotic drive cause hybrid infertility in fission yeast
por: Zanders, Sarah E, et al.
Publicado: (2014)

Structure of the germline genome of Tetrahymena thermophila and relationship to the massively rearranged somatic genome
por: Hamilton, Eileen P, et al.
Publicado: (2016)

A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract
por: Hertecant, Jozef, et al.
Publicado: (2016)

Exon junction complex proteins bind nascent transcripts independently of pre-mRNA splicing in Drosophila melanogaster
por: Choudhury, Subhendu Roy, et al.
Publicado: (2016)

Targeted exon skipping with AAV-mediated split adenine base editors
por: Winter, Jackson, et al.
Publicado: (2019)

Split cord malformations: A two years experience at AIIMS
por: Borkar, Sachin A., et al.
Publicado: (2012)

Split Cord Malformation Combined with Tethered Cord Syndrome in an Adult
por: Kim, Young Deok, et al.
Publicado: (2013)

Split cord malformation type I distal to segmental myelomeningocele
por: Addas, Bassam M.
Publicado: (2014)

Bilateral split hand foot malformation in siblings: Case series
por: Ashi, Mohammed, et al.
Publicado: (2017)

Split spinal cord malformations in 4 Holstein Friesian calves
por: Górriz-Martín, Lara, et al.
Publicado: (2019)

Split-Hand Malformation in a 4-Year-Old Child
por: Meshram, Girish Gulab, et al.
Publicado: (2017)

A Rare Case Report of Split Hand and Foot Malformation
por: Pindaria, Kuldeep Prakashchandra, et al.
Publicado: (2023)

Split Decisions, Split Decisions
Publicado: (2000)

Cannot write session to /tmp/vufind_sessions/sess_oli8b5fq1qfgha2ot57agcq1eb