Found: 29
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Overexpression of PKD2 in the mouse is associated with renal tubulopathy.
- Published in:
- Nephrology Dialysis Transplantation, 2008, v. 23, n. 4, p. 1157, doi. 10.1093/ndt/gfm763
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- Article
Angiotensin‐converting enzyme activity and the ACE Alu polymorphism in autosomal dominant polycystic kidney disease.
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- Nephrology Dialysis Transplantation, 2001, v. 16, n. 12, p. 2323, doi. 10.1093/ndt/16.12.2323
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- Article
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
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- Cells (2073-4409), 2024, v. 13, n. 14, p. 1200, doi. 10.3390/cells13141200
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- Article
Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement.
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- Cells (2073-4409), 2024, v. 13, n. 12, p. 1017, doi. 10.3390/cells13121017
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- Article
SPEF2- and HYDIN-Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics.
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- American Journal of Respiratory Cell & Molecular Biology, 2020, v. 62, n. 3, p. 382, doi. 10.1165/rcmb.2019-0086OC
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- Article
Detection and characterization of circulating cell free tumor DNA in cancer patients with malignant solid tumors. Liquid biopsy: a new tool in molecular pathology?
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- Journal of Laboratory Medicine / Laboratoriums Medizin, 2016, v. 40, n. 5, p. 313, doi. 10.1515/labmed-2016-0035
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- Article
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
- Published in:
- 2022
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- Publication type:
- journal article
A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 21, p. 3249, doi. 10.1093/hmg/ddi356
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- Article
New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 497, doi. 10.1038/ejhg.2013.178
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- Article
Comparison of conformation-sensitive gel electrophoresis and single-strand conformation polymorphism analysis for detection of mutations in the BRCA1 gene using optimized conformation analysis protocols.
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- European Journal of Human Genetics, 1998, v. 6, n. 2, p. 145, doi. 10.1038/sj.ejhg.5200171
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- Article
Copy Number Variants in Patients with Severe Oligozoospermia and Sertoli-Cell-Only Syndrome.
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- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0019426
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- Article
Centrosome overduplication and mitotic instability in PKD2 transgenic lines
- Published in:
- Cell Biology International, 2008, v. 32, n. 10, p. 1193, doi. 10.1016/j.cellbi.2008.07.021
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- Article
Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A.
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- Human Mutation, 2005, v. 26, n. 3, p. 249, doi. 10.1002/humu.20208
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- Article
Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A.
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- Human Mutation, 2002, v. 20, n. 3, p. 236, doi. 10.1002/humu.9062
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- Article
Mutation detection in the duplicated region of the polycystic kidney disease 1 ( PKD1) gene in PKD1-linked Australian families.
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- Human Mutation, 2002, v. 19, n. 3, p. 240, doi. 10.1002/humu.10045
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- Article
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
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- Human Mutation, 2002, v. 19, n. 1, p. 84, doi. 10.1002/humu.9007
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- Article
Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.
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- Human Mutation, 2001, v. 18, n. 6, p. 546, doi. 10.1002/humu.1234
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- Article
Screening the 3′ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations.
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- Human Mutation, 2000, v. 16, n. 2, p. 166, doi. 10.1002/1098-1004(200008)16:2<166::AID-HUMU9>3.0.CO;2-4
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- Article
Identification of four novel mutations in the factor VIII gene: Three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).
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- Human Mutation, 1998, v. 11, p. S260, doi. 10.1002/humu.1380110183
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- Article
Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?
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- Human Mutation, 1992, v. 1, n. 2, p. 138, doi. 10.1002/humu.1380010209
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- Article
Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
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- Human Mutation, 1992, v. 1, n. 2, p. 129, doi. 10.1002/humu.1380010208
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- Article
Chromosomal evolution of the PKD1 gene family in primates.
- Published in:
- BMC Evolutionary Biology, 2008, v. 8, p. 1, doi. 10.1186/1471-2148-8-263
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- Article
The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men.
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- Human Molecular Genetics, 2016, v. 25, n. 22, p. 4898, doi. 10.1093/hmg/ddw313
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- Article
Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles.
- Published in:
- Clinical Genetics, 1990, v. 38, n. 4, p. 270, doi. 10.1111/j.1399-0004.1990.tb03580.x
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- Article
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
- Published in:
- 2019
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- Publication type:
- journal article
Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 9, p. 1675
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- Publication type:
- Article
Low-risk variants FGFR2, TNRC9 and LSP1 in German familial breast cancer patients.
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- International Journal of Cancer, 2010, v. 126, n. 12, p. 2858, doi. 10.1002/ijc.24986
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- Article
Mechanism of cystogenesis in nephrotic kidneys: a histopathological study.
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- BMC Nephrology, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2369-15-3
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- Article
Mechanism of cystogenesis in nephrotic kidneys: a histopathological study.
- Published in:
- 2014
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- Publication type:
- journal article