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TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 2, p. 323, doi. 10.1007/s10072-014-1944-9
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- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes.
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- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34053-7
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- Article
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY.
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- Clinical Genetics, 2000, v. 57, n. 5, p. 406, doi. 10.1034/j.1399-0004.2000.570514.x
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- Article
The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
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- Journal of Child Neurology, 2016, v. 31, n. 6, p. 691, doi. 10.1177/0883073815613562
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- Article
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.
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- 2017
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- Publication type:
- journal article
SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.
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- Journal of Pathology, 2017, v. 243, n. 1, p. 9, doi. 10.1002/path.4926
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- Article
Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2010, v. 51, n. 4, p. 647, doi. 10.1111/j.1528-1167.2009.02308.x
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- Article
Scotosensitive and Photosensitive Myoclonic Seizures in an Infant with Trisomy 13.
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- Epilepsia (Series 4), 2007, v. 48, n. 11, p. 2177, doi. 10.1111/j.1528-1167.2007.01220.x
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- Article
Mapping of a human centromere onto the DNA by topoisomerase II cleavage.
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- EMBO Reports, 2000, v. 1, n. 6, p. 489, doi. 10.1093/embo-reports/kvd110
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- Article
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 1, p. 1, doi. 10.1002/mgg3.1561
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- Article
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
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- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6
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- Article
Idiopathic Central Precocious Puberty Associated with 11Mb De Novo Distal Deletion of the Chromosome 9 Short Arm.
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- Case Reports in Genetics, 2013, p. 1, doi. 10.1155/2013/978087
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- Article
Developmental trends of communicative skills in children with chromosome 14 aberrations.
- Published in:
- 2017
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- Publication type:
- journal article
Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance.
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- Clinical Chemistry & Laboratory Medicine, 2004, v. 42, n. 8, p. 915, doi. 10.1515/CCLM.2004.148
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- Article
A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 810, doi. 10.1002/ajmg.a.36907
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- Article
Periventricular nodular heterotopia in Smith-Magenis syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3142, doi. 10.1002/ajmg.a.36742
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- Article
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3154, doi. 10.1002/ajmg.a.36746
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- Article
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 8, p. 2084, doi. 10.1002/ajmg.a.36591
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- Article
Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1793, doi. 10.1002/ajmg.a.35416
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- Article
Common structural features characterize interstitial intrachromosomal Xp and 18q triplications.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2681, doi. 10.1002/ajmg.a.34248
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- Article
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
- Published in:
- 2014
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- Publication type:
- journal article
A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0508-2
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- Article
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37057-z
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- Publication type:
- Article
Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101244
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- Article
De Novo Unbalanced Translocations in Prader-Willi and Angelman Syndrome Might Be the Reciprocal Product of inv dup(15)s.
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- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039180
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- Article
Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?
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- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001460
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- Article
A newborn with ambiguous genitalia and a complex X;Y rearrangement.
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- 2014
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- Publication type:
- Case Study
Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects.
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- Human Genetics, 2010, v. 128, n. 4, p. 373, doi. 10.1007/s00439-010-0859-7
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- Article
Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood.
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- Human Genetics, 2009, v. 126, n. 4, p. 511, doi. 10.1007/s00439-009-0689-7
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- Article
Epigenetic control of the critical region for premature ovarian failure on autosomal genes translocated to the X chromosome: a hypothesis.
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- Human Genetics, 2007, v. 121, n. 3/4, p. 441, doi. 10.1007/s00439-007-0329-z
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- Article
Direct duplication 12p11.21–p13.31 mediated by segmental duplications: a new recurrent rearrangement?
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- Human Genetics, 2005, v. 118, n. 2, p. 207, doi. 10.1007/s00439-005-0008-x
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- Article
Reciprocal translocations: a trap for cytogenetists?
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- Human Genetics, 2005, v. 117, n. 6, p. 571, doi. 10.1007/s00439-005-1324-x
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- Article
Gene dosage of the spermidine/spermine N<sup>1</sup>-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD).
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- Human Genetics, 2002, v. 111, n. 3, p. 235, doi. 10.1007/s00439-002-0791-6
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- Article
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
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- 2022
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- Publication type:
- Case Study
Phenotypic Expansion in Nasu-Hakola Disease: Immunological Findings in Three Patients and Proposal of a Unifying Pathogenic Hypothesis.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01685
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- Article
A Revised Genome Assembly of the Region 5′ to Canine SOX9 Includes the RevSex Orthologous Region.
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- Sexual Development, 2015, v. 9, n. 3, p. 155, doi. 10.1159/000435871
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- Article
Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.
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- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
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- Article
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 354, doi. 10.1038/ejhg.2014.92
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- Article
Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 160, doi. 10.1038/ejhg.2013.125
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- Article
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias.
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- European Journal of Human Genetics, 2012, v. 20, n. 8, p. 852, doi. 10.1038/ejhg.2012.19
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- Article
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
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- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1302, doi. 10.1038/ejhg.2010.115
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- Article
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis.
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 768, doi. 10.1038/ejhg.2010.1
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- Article
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 434, doi. 10.1038/ejhg.2008.192
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- Article
Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 426, doi. 10.1038/ejhg.2008.195
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- Article
A familial inverted duplication/deletion of 2p25.1–25.3 provides new clues on the genesis of inverted duplications.
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- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 179, doi. 10.1038/ejhg.2008.160
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- Article
Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype.
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- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1443, doi. 10.1038/ejhg.2008.119
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- Article
Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 897, doi. 10.1038/ejhg.2008.28
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- Article