Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia

10.1111/and.13937 ◽

2020 ◽

Author(s):

Poonam Mehta ◽

Singh Rajender

Keyword(s):

Exome Sequencing ◽

Ambiguous Genitalia ◽

Compound Heterozygous ◽

Srd5a2 Gene ◽

Compound Heterozygous Mutations

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Clinical exome sequencing identifies novel compound heterozygous mutations of the WEE2 gene in primary infertile women with fertilization failure

Gynecological Endocrinology ◽

10.1080/09513590.2021.1916458 ◽

2021 ◽

pp. 1-6

Author(s):

Ancong Wang ◽

Shan Huang ◽

Min Liu ◽

Baosong Wang ◽

Fengxia Wu ◽

...

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Fertilization Failure ◽

Infertile Women ◽

Clinical Exome Sequencing ◽

Compound Heterozygous Mutations

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Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia

Journal of the Neurological Sciences ◽

10.1016/j.jns.2013.09.004 ◽

2013 ◽

Vol 335 (1-2) ◽

pp. 112-117 ◽

Author(s):

Wei Zhao ◽

Qing-Yan Zhu ◽

Jia-Tang Zhang ◽

Hui Liu ◽

Li-Juan Wang ◽

...

Keyword(s):

Exome Sequencing ◽

Hereditary Spastic Paraplegia ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Spastic Paraplegia ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.08.002 ◽

2017 ◽

Vol 60 (12) ◽

pp. 635-638 ◽

Author(s):

Ryojun Takeda ◽

Masaki Takagi ◽

Hiroyuki Shinohara ◽

Hiroshi Futagawa ◽

Satoshi Narumi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Japanese Patient ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2019.01.013 ◽

2020 ◽

Vol 63 (1) ◽

pp. 103623 ◽

Author(s):

Kun Li ◽

Runming Jin ◽

Xiaoyan Wu

Keyword(s):

Exome Sequencing ◽

Cerebellar Ataxia ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva

Australasian Journal of Dermatology ◽

10.1111/ajd.12887 ◽

2018 ◽

Vol 60 (1) ◽

pp. e87-e89

Author(s):

Yongqiong Deng ◽

Hong Wang ◽

Yunzhu Mou ◽

Qi Zeng ◽

Xia Xiong

Keyword(s):

Exome Sequencing ◽

Compound Heterozygous ◽

Compound Heterozygous Mutations

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Clinical, Biochemical and Morphologic Diagnostic Markers in an Infant Male Pseudohermaphrodite Patient with Compound Heterozygous Mutations (G115D/R246W) in SRD5A2 Gene

Hormone Research in Paediatrics ◽

10.1159/000081893 ◽

2004 ◽

Vol 62 (5) ◽

pp. 259-264 ◽

Author(s):

Mónica Fernández-Cancio ◽

Joan Rodó ◽

Pilar Andaluz ◽

María Jesús Martínez de Osaba ◽

Francisco Rodríguez-Hierro ◽

...

Keyword(s):

Diagnostic Markers ◽

Compound Heterozygous ◽

Srd5a2 Gene ◽

Compound Heterozygous Mutations ◽

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WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENE

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(15)61377-8 ◽

2015 ◽

Vol 65 (10) ◽

pp. A1377

Author(s):

Hayato Tada ◽

Atsushi Nohara ◽

Masa-aki Kawashiri ◽

Akihiro Inazu ◽

Hiroshi Mabuchi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Atp Binding ◽

Compound Heterozygous ◽

Atp Binding Cassette Transporter ◽

Whole Exome ◽

Recessive Form ◽

Compound Heterozygous Mutations ◽

Atp Binding Cassette

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Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2018.05.1223 ◽

2018 ◽

Vol 79 (3) ◽

pp. AB310

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree

Clinica Chimica Acta ◽

10.1016/j.cca.2016.06.038 ◽

2016 ◽

Vol 460 ◽

pp. 135-137 ◽

Author(s):

Zhihong Wang ◽

Yanhong Lin ◽

Dezhu Zheng ◽

Aizhen Yan ◽

Xiangdong Tu ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Metachromatic Leukodystrophy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Saudi Journal of Biological Sciences ◽

10.1016/j.sjbs.2021.02.014 ◽

2021 ◽

Author(s):

Muhammad Imran Naseer ◽

Angham Abdulrahman Abdulkareem ◽

Osama Yousef Muthaffar ◽

Adeel G. Chaudhary

Keyword(s):

Exome Sequencing ◽

Developmental Delay ◽

Compound Heterozygous ◽

Primary Microcephaly ◽

Compound Heterozygous Mutations

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