Cargando…

Uniparental disomy as a mechanism for CERS3‐mutated autosomal recessive congenital ichthyosis

Detalles Bibliográficos
Autores principales:	Polubothu, S., Glover, M., Holder, S.E., Kinsler, V.A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549133/ https://www.ncbi.nlm.nih.gov/pubmed/30007077 http://dx.doi.org/10.1111/bjd.16999

Ejemplares similares

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
por: Radner, Franz P. W., et al.
Publicado: (2013)

Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans
por: Radner, Franz P. W., et al.
Publicado: (2013)

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

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families
por: Shawky, R. M., et al.
Publicado: (2004)

The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics
por: Polubothu, S., et al.
Publicado: (2017)

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
por: Chulpanova, Daria S., et al.
Publicado: (2022)

A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient
por: Vaigundan, D., et al.
Publicado: (2014)

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy
por: Bai, Shaochun, et al.
Publicado: (2014)

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever
por: Petak, Ana, et al.
Publicado: (2022)

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis
por: Zeng, Fansi, et al.
Publicado: (2022)

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

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis
por: Pohler, E., et al.
Publicado: (2015)

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
por: MAZEREEUW-HAUTIER, Juliette, et al.
Publicado: (2020)

Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
por: Zhang, Lei, et al.
Publicado: (2022)

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

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy
por: Zhang, Lei, et al.
Publicado: (2022)

Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome
por: Polubothu, S., et al.
Publicado: (2017)

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient
por: Ramar, Kavitha, et al.
Publicado: (2014)

A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs
por: Casal, Margret L., et al.
Publicado: (2017)

Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients
por: Sathishkumar, Dharshini, et al.
Publicado: (2018)

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation
por: Dumenigo, Andrea, et al.
Publicado: (2022)

Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
por: Peña-Corona, Sheila I., et al.
Publicado: (2023)

Co-Occurrence of Autosomal Recessive Lamellar Ichthyosis and X-Linked Recessive Ichthyosis in a Consanguineous Pakistani Family
por: Karim, Noreen, et al.
Publicado: (2019)

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan
por: Lima Cunha, Dulce, et al.
Publicado: (2019)

Final congenital melanocytic naevi colour is determined by normal skin colour and unaltered by superficial removal techniques: a longitudinal study
por: Polubothu, S., et al.
Publicado: (2019)

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)

Novel compound heterozygous mutations in the CYP4F22 gene in a patient with autosomal recessive congenital ichthyosis
por: Tang, Haiyan, et al.
Publicado: (2021)

Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea
por: Lyu, Juanjuan, et al.
Publicado: (2021)

Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia
por: Estapé, A., et al.
Publicado: (2015)

First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
por: Zhang, Ping, et al.
Publicado: (2020)

Case Report: Novel Mutation of F5 With Maternal Uniparental Disomy Causes Severe Congenital Factor V Deficiency
por: Cheng, Lin, et al.
Publicado: (2022)

Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome
por: Polubothu, S., et al.
Publicado: (2016)

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)

Cannot write session to /tmp/vufind_sessions/sess_igus2se0qlugq12ud5jjd0cm32