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Trisomy 14 Mosaicism: A Case Report and Review of the Literature.
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- Journal of Perinatology, 2004, v. 24, n. 2, p. 121, doi. 10.1038/sj.jp.7211048
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- Article
Disorders caused by chromosome abnormalities.
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- Application of Clinical Genetics, 2010, v. 3, p. 159, doi. 10.2147/TACG.S8884
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- Article
Pure trisomy 10p involving an isochromosome 10p.
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- Clinical Genetics, 1999, v. 55, n. 5, p. 367, doi. 10.1034/j.1399-0004.1999.550512.x
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- Article
Loss of the Potassium Channel β-Subunit Gene, KCNAB2, Is Associated with Epilepsy in Patients with 1p36 Deletion Syndrome.
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- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1103, doi. 10.1046/j.1528-1157.2001.08801.x
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- Article
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.
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- Human Genetics, 2021, v. 140, n. 11, p. 1501, doi. 10.1007/s00439-021-02375-z
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- Article
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant.
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- Human Genetics, 2021, v. 140, n. 11, p. 1525, doi. 10.1007/s00439-021-02337-5
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- Article
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.
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- Human Genetics, 2021, v. 140, n. 11, p. 1517, doi. 10.1007/s00439-021-02373-1
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- Article
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
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- Human Genetics, 2021, v. 140, n. 11, p. 1581, doi. 10.1007/s00439-021-02330-y
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- Article
Identification of aneuploidy in dogs screened by a SNP microarray.
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- Human Genetics, 2021, v. 140, n. 11, p. 1619, doi. 10.1007/s00439-021-02318-8
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- Article
Genetic screening and mutation identification in a rare canine breed, the ceský fousek.
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- Veterinary Record Case Reports, 2017, v. 4, n. 2, p. 1, doi. 10.1136/vetreccr-2016-000346
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- Article
Genetic screening and mutation identification in a rare canine breed, the ceský fousek.
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- Veterinary Record Case Reports, 2016, v. 4, n. 2, p. 1, doi. 10.1136/vetreccr-2016-000346
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- Article
Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond.
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- Veterinary Record Case Reports, 2015, p. 1, doi. 10.1136/vetreccr-2015-000185
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- Article
Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
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- Journal of Human Genetics, 2014, v. 59, n. 12, p. 667, doi. 10.1038/jhg.2014.92
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- Article
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith–Wiedemann syndrome.
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- Journal of Human Genetics, 2006, v. 51, n. 7, p. 641, doi. 10.1007/s10038-006-0409-2
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- Article
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
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- Article
Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 259, doi. 10.1002/ajmg.a.36163
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- Article
Phenotypic and molecular characterization of 19q12q13.1 deletions: A report of five patients.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 62, doi. 10.1002/ajmg.a.36201
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- Article
Microdeletion of Xq28 involving the AFF2 ( FMR2) gene in two unrelated males with developmental delay.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3110, doi. 10.1002/ajmg.a.34345
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- Article
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
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- Nature Genetics, 2014, v. 46, n. 12, p. 1293, doi. 10.1038/ng.3120
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- Article
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
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- Nature Genetics, 2010, v. 42, n. 9, p. 745, doi. 10.1038/ng.643
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- Article
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2.
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- Nature Genetics, 2007, v. 39, n. 9, p. 1071, doi. 10.1038/ng2107
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- Article
Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski<sup>-/-</sup> mice.
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- Nature Genetics, 2002, v. 30, n. 1, p. 106, doi. 10.1038/ng770
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- Article
Molecular mechanism for duplication 17p11.2? the homologous recombination reciprocal of the Smith-Magenis microdeletion.
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- Nature Genetics, 2000, v. 24, n. 1, p. 84, doi. 10.1038/71743
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- Article
Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis.
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- Prenatal Diagnosis, 2002, v. 22, n. 11, p. 1028, doi. 10.1002/pd.466
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The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements.
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- Prenatal Diagnosis, 2002, v. 22, n. 2, p. 141, doi. 10.1002/pd.279
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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
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- Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1133, doi. 10.1002/pd.186
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- Article
Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15.
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- Prenatal Diagnosis, 2001, v. 21, n. 8, p. 676, doi. 10.1002/pd.133
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- Article
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction.
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- Prenatal Diagnosis, 2001, v. 21, n. 5, p. 395, doi. 10.1002/pd.75
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- Article
Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A by interphase fluorescence in situ hybridization.
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- 1999
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- journal article
Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
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- 1997
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- journal article
Mosaicism for trisomy 12: four cases with varying outcomes.
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- 1995
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- journal article
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicism.
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- 1995
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- journal article
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33.
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- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012462
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- Article
Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome.
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- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006568
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- Article
Using Microarray-based Molecular Cytogenetic Methods to Identify Chromosome Abnormalities.
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- Pediatric Annals, 2009, v. 38, n. 8, p. 440, doi. 10.3928/00904481-20090723-08
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- Article
Prenatal Diagnosis of Charcot-Marie-Tooth Disease Type 1A.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 457, doi. 10.1111/j.1749-6632.1999.tb08609.x
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- Article
Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.
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- Human Genetics, 2019, v. 138, n. 5, p. 437, doi. 10.1007/s00439-019-02025-5
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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.
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- Human Genetics, 2019, v. 138, n. 5, p. 501, doi. 10.1007/s00439-019-02013-9
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Standards and guidelines for canine clinical genetic testing laboratories.
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- Human Genetics, 2019, v. 138, n. 5, p. 493, doi. 10.1007/s00439-018-1954-4
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- Article
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.
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- Human Genetics, 2010, v. 127, n. 4, p. 421, doi. 10.1007/s00439-009-0778-7
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- Article
Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.
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- Human Genetics, 2009, v. 125, n. 5/6, p. 551, doi. 10.1007/s00439-009-0650-9
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- Article
Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocations.
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- Human Genetics, 2006, v. 120, n. 4, p. 519, doi. 10.1007/s00439-006-0222-1
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- Article
Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangements.
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- Human Genetics, 2004, v. 114, n. 2, p. 198, doi. 10.1007/s00439-003-1029-y
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- Article
Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).
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- Human Genetics, 2003, v. 113, n. 5, p. 447, doi. 10.1007/s00439-003-0981-x
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- Article
Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia.
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- Human Genetics, 2002, v. 110, n. 4, p. 371, doi. 10.1007/s00439-002-0699-1
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- Article
A case of segmental paternal isodisomy of chromosome 14.
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- Human Genetics, 2002, v. 110, n. 3, p. 251, doi. 10.1007/s00439-002-0688-4
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- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
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- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Article
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 754, doi. 10.1038/ejhg.2012.6
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- Article
Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.
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- European Journal of Human Genetics, 2011, v. 19, n. 12, p. 1238, doi. 10.1038/ejhg.2011.121
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- Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
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- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237
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- Article