Found: 29
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Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 3, p. 1, doi. 10.1002/mgg3.1114
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- Publication type:
- Article
Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19/IGF2 imprinting control region.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 19, p. 5438, doi. 10.1093/nar/gkl657
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- Publication type:
- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Publication type:
- Article
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2081, doi. 10.1002/ajmg.a.38302
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- Publication type:
- Article
A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1912, doi. 10.1002/ajmg.a.37686
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- Publication type:
- Article
Unusual isochromosome 5p marker chromosome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 455, doi. 10.1002/ajmg.a.36843
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- Publication type:
- Article
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2025, doi. 10.1002/ajmg.a.36547
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- Publication type:
- Article
First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 617, doi. 10.1002/ajmg.a.34416
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- Publication type:
- Article
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
- Published in:
- Nature Genetics, 2003, v. 33, n. 4, p. 463, doi. 10.1038/ng1122
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- Publication type:
- Article
Rapid prenatal diagnosis of Down syndrome using quantitative fluorescence in situ hybridization on interphase nuclei.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 2, p. 146, doi. 10.1002/pd.558
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- Publication type:
- Article
Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
- Published in:
- Andrology, 2022, v. 10, n. 8, p. 1625, doi. 10.1111/andr.13279
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- Publication type:
- Article
Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 73, doi. 10.1038/ejhg.2009.117
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- Publication type:
- Article
Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 865, doi. 10.1038/ejhg.2008.15
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- Publication type:
- Article
Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum.
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- American Journal of Clinical Pathology, 2014, v. 142, n. 2, p. 248, doi. 10.1309/AJCPBLMPRXKU1JUE
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- Publication type:
- Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
- Published in:
- Birth Defects Research, 2023, v. 115, n. 5, p. 563, doi. 10.1002/bdr2.2141
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- Publication type:
- Article
Prenatal diagnosis of a 15q24.1 microdeletion in a fetus with cerebral and urogenital abnormalities.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 537, doi. 10.1111/cge.14592
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- Publication type:
- Article
Shifting the landscape: Dominant C‐terminal rare missense FOXL2 variants in non‐syndromic primary ovarian failure etiology.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 102, doi. 10.1111/cge.14526
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- Publication type:
- Article
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0059-6
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- Publication type:
- Article
Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0155009
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- Publication type:
- Article
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
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- Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 1, p. 135, doi. 10.1007/s10815-023-02981-y
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- Publication type:
- Article
Double chromosomal translocation in an infertile man: one-step FISH meiotic segregation analysis and reproductive prognosis.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 5, p. 973, doi. 10.1007/s10815-019-01430-z
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- Publication type:
- Article
Altered three-dimensional organization of sperm genome in DPY19L2-deficient globozoospermic patients.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2019, v. 36, n. 1, p. 69, doi. 10.1007/s10815-018-1342-y
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- Publication type:
- Article
Inherited interstitial 16q21 deletion of 5.8 Mb without apparent phenotypic effect in three generations of a family: An array-CGH study.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2597, doi. 10.1002/ajmg.a.34210
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- Publication type:
- Article
Maternal serum screening in cases of mosaic and translocation Down syndrome.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 8, p. 699, doi. 10.1002/pd.2051
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- Publication type:
- Article
Optimized criteria for using fluorescence in situ hybridization in the prenatal diagnosis of common aneuploidies.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 4, p. 313, doi. 10.1002/pd.1959
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- Publication type:
- Article
Sonographic measurement of the fetal iliac angle cannot be used alone as a marker for trisomy 21.
- Published in:
- 2000
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- Publication type:
- journal article
Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 14, p. 2183, doi. 10.1093/hmg/9.14.2183
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- Publication type:
- Article
A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221).
- Published in:
- 2023
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- Publication type:
- Case Study
Phenotypic variability in Angelman syndrome — report of two cases.
- Published in:
- Maedica - a Journal of Clinical Medicine, 2008, v. 3, n. 3, p. 192
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- Publication type:
- Article