Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.

Bibliografske podrobnosti
Main Authors:	Halford, S, Holt, R, Németh, A, Downes, S
Format:	Journal article
Jezik:	English
Izdano:	2012

Podobne knjige/članki

Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy
od: Hull, S, et al.
Izdano: (2016)

Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
od: Singh, M, et al.
Izdano: (2016)

The first Japanese family of CDH3‐related hypotrichosis with juvenile macular dystrophy
od: Takaaki Hayashi, et al.
Izdano: (2021-06-01)

CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
od: Omer Karti, et al.
Izdano: (2017-09-01)

Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
od: Yunqing Ren, et al.
Izdano: (2022-06-01)

Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
od: Giovanna Carnovale-Scalzo, et al.
Izdano: (2021-07-01)

Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
od: Giovanna Carnovale-Scalzo, et al.
Izdano: (2024-01-01)

Hypotrichosis with juvenile macular dystrophy: Combination of whole‐genome sequencing and genome‐wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole‐exome sequencing—A lesson from next‐generation sequencing
od: Amir Hossein Saeidian, et al.
Izdano: (2019-11-01)

A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia
od: Kenneth C. Fan, et al.
Izdano: (2019-09-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
od: Al-Khuzaei, S, et al.
Izdano: (2021)

Bimatoprost in the treatment of eyelash hypotrichosis
od: Simon K Law
Izdano: (2010-04-01)

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
od: Nathalia G B P Ferreira, et al.
Izdano: (2023-07-01)

Management of hypotrichosis of the eyelashes: Focus on bimatoprost
od: Steven Fagien
Izdano: (2010-04-01)

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report
od: Saoud Al-Khuzaei, et al.
Izdano: (2021-04-01)

Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis
od: Chanasumon N, et al.
Izdano: (2018-02-01)

Minoxidil a Youth Elixir for Eyebrow Hypotrichosis
od: Varsha Gajbhiye, et al.
Izdano: (2020-02-01)

Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis
od: Tomoki Taki, et al.
Izdano: (2019-10-01)

Advances of Congenital Alopecia/Hypotrichosis in Genetics Research
od: CUI Can, et al.
Izdano: (2023-04-01)

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.
od: Broadgate, S, et al.
Izdano: (2017)

A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats.
od: Marie Abitbol, et al.
Izdano: (2015-01-01)

A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China
od: Bei Zhao, et al.
Izdano: (2023-01-01)

A macular dystrophy?
od: Muskan Garg, et al.
Izdano: (2024-06-01)

Occult Macular Dystrophy
od: Işıl Sayman Muslubaş, et al.
Izdano: (2016-04-01)

Hypotrichosis with keratosis pilaris: a case report and review of literature
od: Ayman M Mahran, et al.
Izdano: (2017-01-01)

Autosomal recessive hereditary hypotrichosis simplex: A case report
od: Esraa A. Shaheen, MD, et al.
Izdano: (2025-02-01)

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
od: Safoura Zardadi, et al.
Izdano: (2020-12-01)

Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay
od: Agustín Romero-Benavente, et al.
Izdano: (2023-10-01)

Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction
od: Hind Alshihry, MD, et al.
Izdano: (2024-01-01)

Prenatal diagnosis of a familial 5p14.3-p14.1 deletion encompassing CDH18, CDH12, PMCHL1, PRDM9 and CDH10 in a fetus with congenital heart disease on prenatal ultrasound
od: Chih-Ping Chen, et al.
Izdano: (2018-10-01)

Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia
od: Gérald Le Gac, et al.
Izdano: (2010-04-01)

A case of autosomal recessive hypotrichosis type 7 and literature review
od: ZHANG Xiaohan, et al.
Izdano: (2024-08-01)

Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin?
od: Josef Finsterer
Izdano: (2020-10-01)

Comparison of optical coherence tomography and fluorescein angiography in assessing macular edema in retinal dystrophies: preliminary results.
od: Stanga, P, et al.
Izdano: (2001)

Publicaciones CDH
od: Anuario de Derechos Humanos
Izdano: (2010-01-01)

Publicaciones CDH
od: Anuario de Derechos Humanos
Izdano: (2008-01-01)

Deletion analysis of Duchenne muscular dystrophy
od: H Erdem, et al.
Izdano: (1993-01-01)

Corneal macular dystrophy. Case Presentation.
od: Leopoldo Garduño-Vieyra, et al.
Izdano: (2022-12-01)

Genetic testing for Stargardt macular dystrophy
od: Abeshi Andi, et al.
Izdano: (2017-10-01)

Macular cysts in bietti crystalline dystrophy
od: Syed Mohideen Abdul Khadar, et al.
Izdano: (2022-01-01)

Analysis of macular cone photoreceptors in a case of occult macular dystrophy
od: Tojo N, et al.
Izdano: (2013-05-01)