Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation

Experimental Eye Research ◽

10.1016/j.exer.2021.108637 ◽

2021 ◽

pp. 108637

Author(s):

Zhen Yi ◽

Wenmin Sun ◽

Xueshan Xiao ◽

Shiqiang Li ◽

Xiaoyun Jia ◽

...

Keyword(s):

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

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Recessive LOXHD1 variants cause a prelingual down-sloping hearing loss: genotype-phenotype correlation and three additional children with novel variants

International Journal of Pediatric Otorhinolaryngology ◽

10.1016/j.ijporl.2021.110715 ◽

2021 ◽

Vol 145 ◽

pp. 110715

Author(s):

Sha Yu ◽

Wen-xia Chen ◽

Yun-Fei Zhang ◽

Chao Chen ◽

Yihua Ni ◽

...

Keyword(s):

Hearing Loss ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

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Novel variants in familial exudative vitreoretinopathy patients with KIF11 mutations and the Genotype–Phenotype correlation

Experimental Eye Research ◽

10.1016/j.exer.2020.108165 ◽

2020 ◽

Vol 199 ◽

pp. 108165

Author(s):

Chonglin Chen ◽

Limei Sun ◽

Songshan Li ◽

Li Huang ◽

Ting Zhang ◽

...

Keyword(s):

Phenotype Correlation ◽

Familial Exudative Vitreoretinopathy ◽

Genotype Phenotype Correlation ◽

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Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants

Human Molecular Genetics ◽

10.1093/hmg/ddx195 ◽

2017 ◽

Author(s):

Osama K. Zaki ◽

George Priya Doss C ◽

Salsabil A. Ali ◽

Ghadeer G. Murad ◽

Shaima A. Elashi ◽

...

Keyword(s):

Computational Analysis ◽

Structural Modelling ◽

Phenotype Correlation ◽

Isovaleric Acidaemia ◽

Genotype Phenotype Correlation ◽

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A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

Bone Abstracts ◽

10.1530/boneabs.2.p160 ◽

2013 ◽

Author(s):

Ponti Emanuela ◽

Mihalich Alessandra ◽

Broggi Francesca ◽

Maria Di Blasio Anna ◽

Luisa Bianchi Maria

Keyword(s):

Osteogenesis Imperfecta ◽

Familial Case ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation

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A rare case of centronuclear myopathy with DNM2 mutation: Genotype-phenotype correlation and review of articles

10.26226/morressier.578f37fed462b8028d88ffc4 ◽

2016 ◽

Author(s):

Amir Ghorbani

Keyword(s):

Rare Case ◽

Centronuclear Myopathy ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation

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Clinical implications of genotype-phenotype correlation in multiple endocrine neoplasia type 2

10.31488/bjcr.1000106 ◽

2018 ◽

Vol 1 (2) ◽

Keyword(s):

Multiple Endocrine Neoplasia ◽

Multiple Endocrine Neoplasia Type ◽

Clinical Implications ◽

Phenotype Correlation ◽

Endocrine Neoplasia ◽

Genotype Phenotype Correlation ◽

Endocrine Neoplasia Type

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Faculty Opinions recommendation of Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1098522.554619 ◽

2008 ◽

Author(s):

Sue Malcolm

Keyword(s):

Cleft Palate ◽

Phenotype Correlation ◽

Comparative Genome ◽

Genotype Phenotype Correlation ◽

Comparative Genome Hybridisation

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Genotype–phenotype correlation in GNB1 ‐related neurodevelopmental disorder: Potential association of p. Leu95Pro with cleft palate

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62080 ◽

2021 ◽

Author(s):

Lisa A. Lansdon ◽

Carol J. Saunders

Keyword(s):

Cleft Palate ◽

Neurodevelopmental Disorder ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation ◽

Potential Association ◽

Disorder Potential

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Genotype–phenotype correlation in Phelan‐McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.62222 ◽

2021 ◽

Author(s):

Arianna Ricciardello ◽

Pasquale Tomaiuolo ◽

Antonio M. Persico

Keyword(s):

Phenotype Correlation ◽

Comprehensive Review ◽

Genotype Phenotype Correlation

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Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease

Transboundary and Emerging Diseases ◽

10.1111/tbed.14004 ◽

2021 ◽

Author(s):

Tom Loney ◽

Hamda Khansaheb ◽

Sathishkumar Ramaswamy ◽

Divinlal Harilal ◽

Zulfa Omar Deesi ◽

...

Keyword(s):

Severe Disease ◽

Phenotype Correlation ◽

Genotype Phenotype Correlation

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