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VRK1 regulates Cajal body dynamics and protects coilin from proteasomal degradation in cell cycle.
- Published in:
- Scientific Reports, 2015, p. 10543, doi. 10.1038/srep10543
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- Publication type:
- Article
Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis.
- Published in:
- Molecular Biology International, 2012, p. 1, doi. 10.1155/2012/797342
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- Publication type:
- Article
Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.
- Published in:
- FEBS Letters, 2020, v. 594, n. 15, p. 2431, doi. 10.1002/1873-3468.13843
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- Publication type:
- Article
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
- Published in:
- Neurogenetics, 2020, v. 21, n. 4, p. 259, doi. 10.1007/s10048-020-00615-4
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- Publication type:
- Article
PGD for fragile X syndrome: ovarian function is the main determinant of success.
- Published in:
- Human Reproduction, 2010, v. 25, n. 10, p. 2629, doi. 10.1093/humrep/deq203
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- Publication type:
- Article
Real-time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations.
- Published in:
- Human Reproduction, 2009, v. 24, n. 12, p. 3225, doi. 10.1093/humrep/dep293
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- Publication type:
- Article
Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34396-6
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- Publication type:
- Article
Vrk1 partial Knockdown in Mice Results in Reduced Brain Weight and Mild Motor Dysfunction, and Indicates Neuronal VRK1 Target Pathways.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29215-x
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- Publication type:
- Article
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 4, p. 555, doi. 10.1093/hmg/ddi052
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- Publication type:
- Article
Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line.
- Published in:
- Prenatal Diagnosis, 2011, v. 31, n. 9, p. 853, doi. 10.1002/pd.2786
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Publication type:
- Article
Using multi-scale genomics to associate poorly annotated genes with rare diseases.
- Published in:
- Genome Medicine, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13073-023-01276-2
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- Publication type:
- Article
Parkin acts as a transcription factor modulating presenilin-1 and presenilin-2 promoter transactivations.
- Published in:
- 2013
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- Publication type:
- Abstract
Loss of function of FIGNL1, a DNA damage response gene, causes human ovarian dysgenesis.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 3, p. K7, doi. 10.1093/ejendo/lvad127
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- Publication type:
- Article
A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 2, p. 209, doi. 10.1530/EJE-12-0127
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for SHOX-related haploinsufficiency in conjunction with trisomy 21 detection by molecular analysis.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2011, v. 28, n. 3, p. 233, doi. 10.1007/s10815-010-9508-2
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2009, v. 26, n. 7, p. 391, doi. 10.1007/s10815-009-9335-5
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- Publication type:
- Article
Discovering predisposing genes for hereditary breast cancer using deep learning.
- Published in:
- Briefings in Bioinformatics, 2024, v. 25, n. 4, p. 1, doi. 10.1093/bib/bbae346
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- Publication type:
- Article
Preimplantation genetic diagnosis (PGD) - prevention of the birth of children affected with endocrine diseases.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2011, v. 24, n. 7/8, p. 543, doi. 10.1515/jpem.2011.262
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- Publication type:
- Article
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 151, doi. 10.1007/s10875-022-01358-7
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- Publication type:
- Article
The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene VRK1 Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 3, p. 936, doi. 10.1523/JNEUROSCI.1998-14.2015
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- Publication type:
- Article
BRCA1 and BRCA2 mutation carriers as potential candidates for chemoprevention trials.
- Published in:
- Journal of Cellular Biochemistry, 2000, v. 77, p. 13, doi. 10.1002/(SICI)1097-4644(2000)77:34+<13::AID-JCB4>3.0.CO;2-F
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- Publication type:
- Article
PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 929, doi. 10.1002/pd.2070
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- Publication type:
- Article
Non-invasive prenatal diagnosis using cell-free fetal DNA in maternal plasma from PGD pregnancies.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2009, v. 19, n. 5, p. 714, doi. 10.1016/j.rbmo.2009.09.005
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- Publication type:
- Article
Simultaneous preimplantation genetic diagnosis for Tay--Sachs and Gaucher disease.
- Published in:
- Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2007, v. 15, n. 1, p. 83, doi. 10.1016/S1472-6483(10)60696-7
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- Publication type:
- Article
The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.
- Published in:
- Endocrine (1355008X), 2020, v. 69, n. 3, p. 650, doi. 10.1007/s12020-020-02327-z
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- Publication type:
- Article
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.
- Published in:
- 2015
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- Publication type:
- journal article
Proof-of-principle rapid noninvasive prenatal diagnosis of autosomal recessive founder mutations.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Testicular differentiation factor SF-1 is required for human spleen development.
- Published in:
- 2014
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- Publication type:
- journal article
Testicular differentiation factor SF-1 is required for human spleen development.
- Published in:
- Journal of Clinical Investigation, 2014, v. 124, n. 5, p. 2071, doi. 10.1172/JCI73186
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- Publication type:
- Article
Heme Oxygenase-1 Promoter Polymorphisms and Neonatal Jaundice.
- Published in:
- Neonatology (16617800), 2014, v. 106, n. 4, p. 323, doi. 10.1159/000365744
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- Publication type:
- Article
A non-pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 938, doi. 10.1002/ajmg.a.33871
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- Publication type:
- Article
Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
- Published in:
- Human Mutation, 1998, v. 12, n. 4, p. 240, doi. 10.1002/(SICI)1098-1004(1998)12:4<240::AID-HUMU4>3.0.CO;2-J
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- Publication type:
- Article
The CYP17A1 −34T > C polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research & Treatment, 2011, v. 126, n. 2, p. 521, doi. 10.1007/s10549-010-1123-5
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- Publication type:
- Article
Preimplantation Genetic Diagnosis in Genomic Regions with Duplications and Pseudogenes: Long-Range PCR in the Single-Cell Assay.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 792, doi. 10.1002/humu.22298
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- Publication type:
- Article
Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription.
- Published in:
- Journal of Molecular Cell Biology, 2013, v. 5, n. 2, p. 132, doi. 10.1093/jmcb/mjt003
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- Publication type:
- Article
The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1268, doi. 10.1002/ajmg.a.61538
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- Publication type:
- Article
Thiopurine S-methyltransferase (TPMT) Activity Is Better Determined by Biochemical Assay Versus Genotyping in the Jewish Population.
- Published in:
- Digestive Diseases & Sciences, 2014, v. 59, n. 6, p. 1207, doi. 10.1007/s10620-013-3008-z
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- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
- By:
- Publication type:
- Article
SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-45292-z
- By:
- Publication type:
- Article
Genomic analysis of inherited breast cancer among Palestinian women: Genetic heterogeneity and a founder mutation in TP53.
- Published in:
- International Journal of Cancer, 2017, v. 141, n. 4, p. 750, doi. 10.1002/ijc.30771
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- Publication type:
- Article
Establishment of Homozygote Mutant Human Embryonic Stem Cells by Parthenogenesis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0138893
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- Publication type:
- Article
TODRA, a lncRNA at the RAD51 Locus, Is Oppositely Regulated to RAD51, and Enhances RAD51-Dependent DSB (Double Strand Break) Repair.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0134120
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- Publication type:
- Article