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Mechanisms of MRP over-expression in four human lung-cancer cell lines and analysis of the MRP amplicon.
- Published in:
- International Journal of Cancer, 1995, v. 60, n. 5, p. 676, doi. 10.1002/ijc.2910600518
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- Publication type:
- Article
GPSM 2 and Chudley- Mc Cullough Syndrome: A Dutch Founder Variant Brought to North America.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 973, doi. 10.1002/ajmg.a.35808
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- Publication type:
- Article
Cyst expansion and regression in a mouse model of polycystic kidney disease.
- Published in:
- Kidney International, 2013, v. 83, n. 6, p. 1099, doi. 10.1038/ki.2013.13
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- Publication type:
- Article
Acute nonlymphocytic leukemia 5 years after treatment with cisplatin, vinblastine, and bleomycin for disseminated testicular cancer.
- Published in:
- 1986
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- Publication type:
- journal article
Altered Hippo signalling in polycystic kidney disease.
- Published in:
- Journal of Pathology, 2011, v. 224, n. 1, p. 133, doi. 10.1002/path.2856
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- Publication type:
- Article
Elevated TGFβ-Smad signalling in experimental Pkd1 models and human patients with polycystic kidney disease.
- Published in:
- Journal of Pathology, 2010, v. 222, n. 1, p. 21, doi. 10.1002/path.2734
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- Publication type:
- Article
Cellular localization and tissue distribution of polycystin-1.
- Published in:
- Journal of Pathology, 1999, v. 188, n. 4, p. 439, doi. 10.1002/(SICI)1096-9896(199908)188:4<439::AID-PATH367>3.0.CO;2-P
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- Publication type:
- Article
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 379, doi. 10.1038/ng.2217
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- Publication type:
- Article
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 435, doi. 10.1038/ng.1083
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- Publication type:
- Article
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 20, doi. 10.1038/ng.724
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- Publication type:
- Article
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 213, doi. 10.1038/90038
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- Publication type:
- Article
The Jumping SHOX Gene—Crossover in the Pseudoautosomal Region Resulting in Unusual Inheritance of Leri-Weill Dyschondrosteosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 2, p. E356, doi. 10.1210/jc.2010-1505
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- Publication type:
- Article
Myocardial Structural Alteration and Systolic Dysfunction in Preclinical Hypertrophic Cardiomyopathy Mutation Carriers.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0036115
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- Publication type:
- Article
Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 9, p. 3482, doi. 10.1210/jc.2006-0368
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- Publication type:
- Article
Genetic testing in familial melanoma: uptake and implications.
- Published in:
- Psycho-Oncology, 2008, v. 17, n. 8, p. 790, doi. 10.1002/pon.1377
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- Publication type:
- Article
Identification of copy number variants associated with BPES-like phenotypes.
- Published in:
- Human Genetics, 2008, v. 124, n. 5, p. 489, doi. 10.1007/s00439-008-0574-9
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- Publication type:
- Article
Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 591, doi. 10.1007/s00439-007-0341-3
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- Publication type:
- Article
A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance.
- Published in:
- Human Genetics, 2006, v. 120, n. 1, p. 77, doi. 10.1007/s00439-006-0185-2
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- Publication type:
- Article
Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Human Genetics, 2005, v. 118, n. 2, p. 185, doi. 10.1007/s00439-005-0027-7
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- Publication type:
- Article
Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.
- Published in:
- Human Genetics, 2000, v. 106, n. 4, p. 392, doi. 10.1007/s004390000268
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- Publication type:
- Article
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.
- Published in:
- Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227
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- Publication type:
- Article
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 29, doi. 10.1038/ejhg.2014.59
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- Publication type:
- Article
Copy number variants in patients with short stature.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 602, doi. 10.1038/ejhg.2013.203
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- Publication type:
- Article
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 21, doi. 10.1038/ejhg.2012.101
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- Publication type:
- Article
The clinical spectrum of complete FBN1 allele deletions.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
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- Publication type:
- Article
Experiences with array-based sequence capture; toward clinical applications.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 50, doi. 10.1038/ejhg.2010.145
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- Publication type:
- Article
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1394, doi. 10.1038/ejhg.2009.74
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- Publication type:
- Article
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1135, doi. 10.1038/ejhg.2008.72
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- Publication type:
- Article
Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
- Published in:
- 2008
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- Publication type:
- Correction Notice
Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1034, doi. 10.1038/sj.ejhg.5201871
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- Publication type:
- Article
A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly–syndactyly syndrome.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 743, doi. 10.1038/sj.ejhg.5201833
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- Publication type:
- Article
Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 2, p. 180, doi. 10.1038/sj.ejhg.5201540
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- Publication type:
- Article
Genetic Testing: From chromosomes to DNA, a revolution in prenatal diagnosis.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 517, doi. 10.1038/sj.ejhg.5201327
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- Publication type:
- Article
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 649, doi. 10.1038/sj.ejhg.5201392
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- Publication type:
- Article
Unclassified variants in disease-causing genes: nonuniformity of genetic testing and counselling, a proposal for guidelines.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 4, p. 470, doi. 10.1038/sj.ejhg.5201343
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- Publication type:
- Article
Mutation detection for exons 2 to 10 of the Polycystic Kidney Disease 1 (PKD1)-gene by DGGE.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 957, doi. 10.1038/sj.ejhg.5200756
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- Publication type:
- Article
Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2).
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 8, p. 860, doi. 10.1038/sj.ejhg.5200383
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- Publication type:
- Article
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.
- Published in:
- Kidney International, 1990, v. 38, n. 5, p. 880, doi. 10.1038/ki.1990.286
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- Publication type:
- Article
Genomic acute myeloid leukemia-associated inv(16)(p13q22) breakpoints are tightly clustered.
- Published in:
- Oncogene, 1999, v. 18, n. 2, p. 543, doi. 10.1038/sj.onc.1202321
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- Publication type:
- Article
No vessel wall abnormalities in a human foetus with a NOTCH3 mutation.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.
- Published in:
- Acta Neuropathologica, 2003, v. 106, n. 2, p. 107, doi. 10.1007/s00401-003-0701-6
- By:
- Publication type:
- Article
Copy Number Variants in Short Children Born Small for Gestational Age.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 82, n. 5, p. 310, doi. 10.1159/000367712
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- Publication type:
- Article
Genome-Wide SNP Array Analysis in Patients with Features of Sotos Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 4, p. 265, doi. 10.1159/000284391
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- Publication type:
- Article
CBFB/MYH11 fusion in a patient with AML-M4Eo and cytogenetically normal chromosomes 16.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 29, n. 2, p. 186, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1020>3.0.CO;2-0
- By:
- Publication type:
- Article
The ACE insertion/deletion polymorphism has no influence on progression of renal function loss in autosomal dominant polycystic kidney disease.
- Published in:
- Nephrology Dialysis Transplantation, 2000, v. 15, n. 6, p. 836, doi. 10.1093/ndt/15.6.836
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- Publication type:
- Article
Minimal residual disease quantification in patients with acute myeloid leukaemia and inv(16)/CBFB-MYH11 gene fusion.
- Published in:
- British Journal of Haematology, 2002, v. 118, n. 2, p. 411, doi. 10.1046/j.1365-2141.2002.03738.x
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- Publication type:
- Article
Quantification of Cre-mediated recombination by a novel strategy reveals a stable extra-chromosomal deletion-circle in mice.
- Published in:
- BMC Biotechnology, 2008, v. 8, p. 1, doi. 10.1186/1472-6750-8-18
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- Publication type:
- Article
Coffin- Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1519, doi. 10.1002/humu.22394
- By:
- Publication type:
- Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
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- Publication type:
- Article