Found: 48
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Periodontal Ehlers-Danlos syndrome is associated with leukoencephalopathy.
- Published in:
- Neurogenetics, 2019, v. 20, n. 1, p. 1, doi. 10.1007/s10048-018-0560-x
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- Publication type:
- Article
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1151, doi. 10.1038/ejhg.2014.273
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- Publication type:
- Article
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. 3444, doi. 10.1093/brain/awad146
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- Publication type:
- Article
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. 4202, doi. 10.1093/brain/awac295
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- Publication type:
- Article
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
- Published in:
- 2020
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- Publication type:
- journal article
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
- Published in:
- 2019
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- Publication type:
- journal article
A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.
- Published in:
- 2017
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- Publication type:
- journal article
Recessive ITPA mutations cause an early infantile encephalopathy.
- Published in:
- 2015
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- Publication type:
- journal article
Mutations in RARS cause hypomyelination.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 1, p. 134, doi. 10.1002/ana.24167
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- Publication type:
- Article
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/ BRCA2 mutations.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 42, n. 4, p. 404, doi. 10.1002/gcc.20153
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- Publication type:
- Article
Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 577, doi. 10.1038/ejhg.2011.226
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- Publication type:
- Article
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
- Published in:
- Nature Genetics, 2012, v. 44, n. 3, p. 312, doi. 10.1038/ng.1049
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- Publication type:
- Article
The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.
- Published in:
- 2005
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- Publication type:
- Letter
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.
- Published in:
- Nature Genetics, 2005, v. 37, n. 5, p. 468, doi. 10.1038/ng1548
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- Publication type:
- Article
A novel ubiquitin ligase is deficient in Fanconi anemia.
- Published in:
- Nature Genetics, 2003, v. 35, n. 2, p. 165, doi. 10.1038/ng1241
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- Publication type:
- Article
Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 45, doi. 10.1111/cge.14239
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- Publication type:
- Article
Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.
- Published in:
- Molecular Oncology, 2015, v. 9, n. 4, p. 877, doi. 10.1016/j.molonc.2014.12.012
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- Publication type:
- Article
The novel bispecific diabody αCD40/αCD28 strengthens leukaemic dendritic cell-induced T-cell reactivity.
- Published in:
- British Journal of Haematology, 2008, v. 142, n. 2, p. 273, doi. 10.1111/j.1365-2141.2008.06990.x
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- Publication type:
- Article
Short Report Bi-allelic silencing of the Fanconi anaemia gene FANCF in acute myeloid leukaemia.
- Published in:
- British Journal of Haematology, 2003, v. 123, n. 3, p. 469, doi. 10.1046/j.1365-2141.2003.04640.x
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- Publication type:
- Article
Aberrant Fanconi anaemia protein profiles in acute myeloid leukaemia cells.
- Published in:
- British Journal of Haematology, 2000, v. 111, n. 4, p. 1057, doi. 10.1111/j.1365-2141.2000.02450.x
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- Publication type:
- Article
A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation.
- Published in:
- Familial Cancer, 2013, v. 12, n. 3, p. 373, doi. 10.1007/s10689-012-9593-8
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- Publication type:
- Article
The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2.
- Published in:
- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0006936
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- Publication type:
- Article
The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM.
- Published in:
- Nature Genetics, 2000, v. 24, n. 1, p. 15, doi. 10.1038/71626
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- Publication type:
- Article
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.
- Published in:
- Nature Genetics, 1999, v. 22, n. 4, p. 379, doi. 10.1038/11956
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- Publication type:
- Article
The Fanconi anaemia group G gene FANCG is identical with XRCC9.
- Published in:
- Nature Genetics, 1998, v. 20, n. 3, p. 281, doi. 10.1038/3093
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- Publication type:
- Article
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.
- Published in:
- 2011
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- Publication type:
- journal article
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. N.PAG, doi. 10.3389/fphys.2021.628236
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- Publication type:
- Article
Fanconi anemia gene mutations are not involved in sporadic Wilms tumor.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 742, doi. 10.1002/pbc.22588
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- Publication type:
- Article
Analysis of baseline and cisplatin-inducible gene expression in Fanconi anemia cells using oligonucleotide-based microarrays.
- Published in:
- BMC Blood Disorders, 2002, v. 2, p. 5
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- Publication type:
- Article
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 3, p. 217, doi. 10.1002/jmd2.12359
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- Publication type:
- Article
Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 14, p. e128, doi. 10.1093/nar/gni127
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- Publication type:
- Article
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
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- 2014
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- Publication type:
- journal article
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1921
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- Publication type:
- Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
- Published in:
- 2013
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- Publication type:
- Journal Article
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1534, doi. 10.1093/brain/awt054
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- Publication type:
- Article
Genomic profiling of CHEK2*1100delC-mutated breast carcinomas.
- Published in:
- 2015
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- Publication type:
- journal article
Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896
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- Publication type:
- Article
A Novel Splice Site Mutation in the Noncoding Region of BRCA2: Implications for Fanconi Anemia and Familial Breast Cancer Diagnostics.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 442, doi. 10.1002/humu.22505
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- Publication type:
- Article
Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1313, doi. 10.1002/humu.22368
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- Publication type:
- Article
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1322, doi. 10.1002/humu.22370
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- Publication type:
- Article
Analysis of the Novel Fanconi Anemia Gene SLX4/ FANCP in Familial Breast Cancer Cases.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 70, doi. 10.1002/humu.22206
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- Publication type:
- Article
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 7, p. 1223, doi. 10.1093/hmg/ddac288
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- Publication type:
- Article
Homozygous <italic>DMRT2</italic> variant associates with severe rib malformations in a newborn.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1216, doi. 10.1002/ajmg.a.38668
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- Publication type:
- Article
Benign and malignant tumors in Rubinstein–Taybi syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 597, doi. 10.1002/ajmg.a.38603
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- Publication type:
- Article
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1827
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- Publication type:
- Article
Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 4, p. 423, doi. 10.1093/hmg/10.4.423
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- Publication type:
- Article