Cargando…

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation. Hutchinson-Gilford Progeria Syndrome (HGPS) is characterized by the clinical features of accelerate...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bai, Shaochun, Lozada, Anthony, Jones, Marilyn C., Dietz, Harry C., Dempsey, Melissa, Das, Soma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930135/ https://www.ncbi.nlm.nih.gov/pubmed/24639906 http://dx.doi.org/10.1155/2014/508231

Ejemplares similares

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China
por: Luo, Di-Qing, et al.
Publicado: (2014)

Cytogenetic contribution to uniparental disomy (UPD)
por: Liehr, Thomas
Publicado: (2010)

Alström syndrome caused by maternal uniparental disomy
por: Lopour, Madeline Q.R., et al.
Publicado: (2022)

Hutchinson-Gilford Progeria Versus Mandibuloacral Dysplasia
por: Mehrez, Mennat Allah I, et al.
Publicado: (2014)

Hutchinson–Gilford Syndrome (Progeria) with Heterozygous Mutation in the LMNA Gene-ENST00000368300.9 Presenting with Mandibuloacral Dysplasia and Acrogeroid Features—Overlap of Premature Aging Syndromes
por: Muralidharan, Sniya, et al.
Publicado: (2022)

Uniparental disomy as a cause of pediatric endocrine disorders
por: Matsubara, Keiko, et al.
Publicado: (2018)

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly
por: Griffin, Nicole G., et al.
Publicado: (2017)

Uniparental disomy is a chromosomic disorder in the first place
por: Liehr, Thomas
Publicado: (2022)

Mandibuloacral dysplasia in a young Vietnamese girl caused by homozygous missense variant c.1579C>T in the LMNA gene with progeria and severe skin lesions
por: Doanh, Le Huu, et al.
Publicado: (2021)

Phenotypic spectrum in uniparental disomy: Low incidence or lack of study?
por: Bhatt, Arpan D., et al.
Publicado: (2013)

Prognostic relevance of acquired uniparental disomy in serous ovarian cancer
por: Tuna, Musaffe, et al.
Publicado: (2015)

Uniparental disomy and prenatal phenotype: Two case reports and review
por: Li, Xiaofei, et al.
Publicado: (2017)

Uniparental Disomy Leading to a Rare Juvenile Form of ALS
por: Karasozen, Yigit, et al.
Publicado: (2020)

The non-random landscape of somatically-acquired uniparental disomy in cancer
por: Erola, Pau, et al.
Publicado: (2019)

Uniparental disomy: expanding the clinical and molecular phenotypes of whole chromosomes
por: Chen, Qi, et al.
Publicado: (2023)

Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis
por: Polubothu, S., et al.
Publicado: (2018)

Transcatheter Aortic Valve Replacement in a Young Patient With Mandibuloacral Dysplasia
por: Stefanescu Schmidt, Ada C., et al.
Publicado: (2021)

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy
por: Shaffer, Lisa G., et al.
Publicado: (2001)

Uniparental disomy - clinical consequences due to imprinting and activation of recessive genes
por: Liehr, Thomas
Publicado: (2014)

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7
por: Hannula-Jouppi, Katariina, et al.
Publicado: (2014)

Difficult tracheal intubation in a patient with maternal uniparental disomy 14
por: Furutani, Kenta, et al.
Publicado: (2016)

Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers
por: Torabi, Keyvan, et al.
Publicado: (2018)

Untimely expression of gametogenic genes in vegetative cells causes uniparental disomy
por: Folco, H. Diego, et al.
Publicado: (2017)

Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
por: Chen, Min, et al.
Publicado: (2019)

Uniparental disomy in a population of 32,067 clinical exome trios
por: Scuffins, Julie, et al.
Publicado: (2021)

Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene
por: Wu, Tenghui, et al.
Publicado: (2023)

Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism
por: Tung, Joanna Yuet-ling, et al.
Publicado: (2020)

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease
por: Riveiro-Alvarez, R., et al.
Publicado: (2007)

Chromosome-wide identification of novel imprinted genes using microarrays and uniparental disomies
por: Schulz, Reiner, et al.
Publicado: (2006)

Soft tissue sarcoma subtypes exhibit distinct patterns of acquired uniparental disomy
por: Tuna, Musaffe, et al.
Publicado: (2012)

Genome-wide uniparental disomy screen in human discarded morphologically abnormal embryos
por: Xu, Jiawei, et al.
Publicado: (2015)

PMM2‐CDG caused by uniparental disomy: Case report and literature review
por: Vaes, Laurien, et al.
Publicado: (2020)

Accurate detection of clinically relevant uniparental disomy from exome sequencing data
por: Yauy, Kevin, et al.
Publicado: (2019)

Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients
por: Wang, Lei, et al.
Publicado: (2021)

Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay
por: Wallerstein, Violet, et al.
Publicado: (2022)

Association between Acquired Uniparental Disomy and Homozygous Mutations and HER2/ER/PR Status in Breast Cancer
por: Tuna, Musaffe, et al.
Publicado: (2010)

Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14
por: Ogata, Tsutomu, et al.
Publicado: (2008)

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome
por: Choufani, Sanaa, et al.
Publicado: (2021)

Prenatal diagnosis of 7 cases with uniparental disomy by utilization of single nucleotide polymorphism array
por: Zhou, Lili, et al.
Publicado: (2021)

Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
por: Hattori, Atsushi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_jbefg44bfk6ba40ce7v6ki52q4