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Items: 12


A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.

Huang YT, Zhang LH, Li MF, Cheng L, Zou GY, Zhou HH.

Brain Res Bull. 2019 Jan 8. pii: S0361-9230(18)30540-9. doi: 10.1016/j.brainresbull.2019.01.006. [Epub ahead of print]


Integrative data fusion for comprehensive assessment of a novel CHEK2 variant using combined genomics, imaging, and functional-structural assessments via protein informatics.

Hines SL, Mohammad AN, Jackson J, Macklin S, Caulfield TR.

Mol Omics. 2019 Jan 11. doi: 10.1039/c8mo00137e. [Epub ahead of print]


Whole-exome sequencing in multiplex preeclampsia families identifies novel candidate susceptibility genes.

Melton PE, Johnson MP, Gokhale-Agashe D, Rea AJ, Ariff A, Cadby G, Peralta JM, Mcnab TJ, Allcock RJ, Abraham LJ, Blangero J, Brennecke SP, Moses EK.

J Hypertens. 2019 Jan 9. doi: 10.1097/HJH.0000000000002023. [Epub ahead of print]


Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.

Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS.

J Pediatr Gastroenterol Nutr. 2019 Jan 8. doi: 10.1097/MPG.0000000000002258. [Epub ahead of print] No abstract available.


Inflammatory bowel diseases and primary immunodeficiency diseases.

Kanegane H.

Immunol Med. 2019 Jan 11:1-8. doi: 10.1080/25785826.2018.1556025. [Epub ahead of print]


RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.

Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW.

Mol Genet Genomic Med. 2019 Jan 10:e00560. doi: 10.1002/mgg3.560. [Epub ahead of print]


Sodium sensitivity of blood pressure in Chinese populations.

Liu Y, Shi M, Dolan J, He J.

J Hum Hypertens. 2019 Jan 10. doi: 10.1038/s41371-018-0152-0. [Epub ahead of print]


Proteome analysis of human neutrophil granulocytes from patients with monogenic disease using data-independent acquisition.

Grabowski P, Hesse S, Hollizeck S, Rohlfs M, Behrends U, Sherkat R, Tamary H, Ünal E, Somech R, Patıroğlu T, Canzar S, van der Werff Ten Bosch J, Klein C, Rappsilber J.

Mol Cell Proteomics. 2019 Jan 10. pii: mcp.RA118.001141. doi: 10.1074/mcp.RA118.001141. [Epub ahead of print]


Late-Onset Pattern Macular Dystrophy mimicking ABCA4 and PRPH2 disease is caused by a Homozygous Frameshift Mutation in ROM1.

Ma CJ, Lee W, Stong N, Zernant J, Chang S, Goldstein D, Nagasaki T, Allikmets R.

Cold Spring Harb Mol Case Stud. 2019 Jan 10. pii: mcs.a003624. doi: 10.1101/mcs.a003624. [Epub ahead of print]


Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report.

Danyel M, Suk EK, Raile V, Gellermann J, Knaus A, Horn D.

BMC Med Genomics. 2019 Jan 10;12(1):6. doi: 10.1186/s12920-018-0471-6.


Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies.

Ravesh Z, Dianatpour M, Fardaei M, Taghdiri M, Hashemi-Gorji F, Yassaee VR, Miryounesi M.

Mol Vis. 2018 Oct 19;24:679-689. eCollection 2018.


Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophies.

Kakar N, Horn D, Decker E, Sowada N, Kubisch C, Ahmad J, Borck G, Bergmann C.

Am J Med Genet A. 2018 Feb;176(2):438-442. doi: 10.1002/ajmg.a.38562. Epub 2017 Dec 22.


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