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Expression pattern of the Y‐linked PRY gene suggests a function in apoptosis but not in spermatogenesis.
- Published in:
- Molecular Human Reproduction, 2004, v. 10, n. 1, p. 15, doi. 10.1093/molehr/gah010
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- Publication type:
- Article
Study of DNA-methylation patterns at chromosome 15q11-q13 in children born after ICSI reveals no imprinting defects.
- Published in:
- Molecular Human Reproduction, 2000, v. 6, n. 11, doi. 10.1093/molehr/6.11.1049
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- Publication type:
- Article
Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens.
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 1, p. 10, doi. 10.1093/molehr/5.1.10
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- Publication type:
- Article
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
- Published in:
- 2005
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- Publication type:
- journal article
Early onset Huntington disease: a neuronal degeneration syndrome.
- Published in:
- 2004
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- Publication type:
- journal article
Pearson marrow pancreas syndrome: a molecular study and clinical management.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 5, p. 338, doi. 10.1111/j.1399-0004.1997.tb02484.x
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- Publication type:
- Article
Convert your favorite protein modeling program into a mutation predictor: "MODICT".
- Published in:
- BMC Bioinformatics, 2016, v. 17, p. 1, doi. 10.1186/s12859-016-1286-0
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- Publication type:
- Article
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
- Published in:
- Electrophoresis, 2009, v. 30, n. 20, p. 3565, doi. 10.1002/elps.200900213
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- Publication type:
- Article
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.
- Published in:
- BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/6191307
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- Publication type:
- Article
Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.
- Published in:
- Nature Genetics, 2000, v. 26, n. 3, p. 273, doi. 10.1038/81563
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- Publication type:
- Article
Genetic causes of spermatogenic failure.
- Published in:
- Asian Journal of Andrology, 2012, v. 14, n. 1, p. 40, doi. 10.1038/aja.2011.67
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- Publication type:
- Article
Embryo implantation after biopsy of one or two cells from cleavage-stage embryos with a view to preimplantation genetic diagnosis.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 13, p. 1030, doi. 10.1002/1097-0223(200012)20:13<1030::AID-PD977>3.0.CO;2-D
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- Publication type:
- Article
Normal pregnancy after preimplantation DNA diagnosis of a dystrophin gene deletion.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 4, p. 351, doi. 10.1002/pd.1970150409
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- Publication type:
- Article
Polymerase chain reaction analysis of the cystic fibrosis delta F508 mutation in human blastomeres following oocyte injection of a single sperm from a carrier.
- Published in:
- 1993
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- Publication type:
- journal article
A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112950
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- Publication type:
- Article
Proteomic analysis in giant axonal neuropathy: New insights into disease mechanisms.
- Published in:
- Muscle & Nerve, 2012, v. 46, n. 2, p. 246, doi. 10.1002/mus.23306
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- Publication type:
- Article
Molecular Analysis in Two Siblings African Patients with Severe Form of Hunter Syndrome: Identification of a Novel (p.Y54X) Nonsense Mutation.
- Published in:
- Journal of Tropical Pediatrics, 2007, v. 53, n. 6, p. 434, doi. 10.1093/tropej/fmm056
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- Publication type:
- Article
Preimplantation genetic diagnosis for spinal and bulbar muscular atrophy (SBMA).
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 494, doi. 10.1007/s004390100534
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- Publication type:
- Article
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
- Published in:
- Human Genetics, 2000, v. 106, n. 6, p. 605, doi. 10.1007/s004390000298
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- Publication type:
- Article
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 41, doi. 10.1038/ejhg.2014.49
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- Publication type:
- Article
A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 695, doi. 10.1038/ejhg.2012.241
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- Publication type:
- Article
Possible role of USP26 in patients with severely impaired spermatogenesis.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 3, p. 336, doi. 10.1038/sj.ejhg.5201335
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- Publication type:
- Article
Preimplantation genetic diagnosis for Huntington's disease with exclusion testing.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 591, doi. 10.1038/sj.ejhg.5200865
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- Publication type:
- Article
DNA Methylation Analysis in Immature Testicular Sperm Cells at Different Developmental Stages.
- Published in:
- Urologia Internationalis, 2001, v. 67, n. 2, p. 151, doi. 10.1159/000050972
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- Publication type:
- Article
Male infertility and the involvement of the X chromosome.
- Published in:
- Human Reproduction Update, 2009, v. 15, n. 6, p. 623, doi. 10.1093/humupd/dmp023
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- Publication type:
- Article
Effect of Resveratrol on Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects.
- Published in:
- Phytotherapy Research, 2014, v. 28, n. 2, p. 312, doi. 10.1002/ptr.4988
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- Publication type:
- Article
Birth after preimplantation diagnosis of the cystic fibrosis deltaF508 mutation by polymerase...
- Published in:
- JAMA: Journal of the American Medical Association, 1994, v. 272, n. 23, p. 1858, doi. 10.1001/jama.1994.03520230068040
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- Publication type:
- Article
Serine Protease Activity and Residual LEKTI Expression Determine Phenotype in Netherton Syndrome.
- Published in:
- Journal of Investigative Dermatology, 2006, v. 126, n. 7, p. 1609, doi. 10.1038/sj.jid.5700288
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- Publication type:
- Article
Characterization of CoQ biosynthesis in fibroblasts of patients with primary and secondary CoQ deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 53, doi. 10.1007/s10545-013-9620-4
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- Publication type:
- Article
Complex III staining in blue native polyacrylamide gels.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 741, doi. 10.1007/s10545-011-9315-7
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- Publication type:
- Article
Do we need to search for gr/gr deletions in infertile men in a clinical setting?
- Published in:
- Human Reproduction, 2008, v. 23, n. 5, p. 1193, doi. 10.1093/humrep/den069
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- Publication type:
- Article
The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion.
- Published in:
- Human Reproduction, 2005, v. 20, n. 7, p. 1887, doi. 10.1093/humrep/deh847
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- Publication type:
- Article
Cystic fibrosis and infertility caused by congenital bilateral absence of the vas deferens and related clinical entities.
- Published in:
- Human Reproduction, 1996, v. 11, n. suppl_4, p. 55, doi. 10.1093/humrep/11.suppl_4.55
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- Publication type:
- Article
Genetics: The use of epididymal and testicular spermatozoa for intracytoplasmic sperm injection: the genetic implications for male infertility.
- Published in:
- Human Reproduction, 1995, v. 10, n. 8, p. 2031
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- Publication type:
- Article
Amplification of X- and Y-chromosome-specific regions from single human blastomeres by polymerase chain reaction for sexing of preimplantation embryos.
- Published in:
- 1994
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- Publication type:
- journal article
Clinical implementation of gene panel testing for lysosomal storage diseases.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 2, p. N.PAG, doi. 10.1002/mgg3.527
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- Publication type:
- Article
What about gr/gr deletions and male infertility? Systematic review and meta-analysis.
- Published in:
- Human Reproduction Update, 2011, v. 17, n. 2, p. 197, doi. 10.1093/humupd/dmq046
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- Publication type:
- Article
A novel L1CAM mutation with L1 spectrum disorders.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 1, p. 57, doi. 10.1002/pd.978
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- Publication type:
- Article
Systematic Detection of Pathogenic Alu Element Insertions in NGS-Based Diagnostic Screens: The BRCA1/ BRCA2 Example.
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 785, doi. 10.1002/humu.22297
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- Publication type:
- Article
Cancer predisposing missense and protein truncating BARD1 mutations in non- BRCA1 or BRCA2 breast cancer families.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. E1175, doi. 10.1002/humu.21200
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- Publication type:
- Article
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9500
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- Publication type:
- Article
De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes.
- Published in:
- Human Mutation, 2005, v. 26, n. 3, p. 284, doi. 10.1002/humu.9366
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- Publication type:
- Article
Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 12, p. 1439, doi. 10.1093/hmg/ddg158
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- Publication type:
- Article
Genetically heterogeneous selective intestinal malabsorption of vitamin B<sub>12</sub>: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 327, doi. 10.1002/humu.20014
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- Publication type:
- Article
Mutations in the X-linked pyruvate dehydrogenase (E1) α subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 2000, v. 15, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K
- By:
- Publication type:
- Article
Mutation analysis of the pyruvate dehydrogenase E<sub>1</sub>α gene in eight patients with a pyruvate dehydrogenase complex deficiency.
- Published in:
- Human Mutation, 1996, v. 7, n. 1, p. 46, doi. 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N
- By:
- Publication type:
- Article
I-PV: a CIRCOS module for interactive protein sequence visualization.
- Published in:
- 2016
- By:
- Publication type:
- Product Review
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia F. M. Hannan et al. CaSR mutation in hyperparathyroidism
- Published in:
- Clinical Endocrinology, 2010, v. 73, n. 6, p. 715, doi. 10.1111/j.1365-2265.2010.03870.x
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- Publication type:
- Article
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 2, p. 307
- By:
- Publication type:
- Article
Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1735
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- Publication type:
- Article