Found: 26
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Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.
- Published in:
- Human Genetics, 2001, v. 108, n. 6, p. 511, doi. 10.1007/s004390100522
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- Publication type:
- Article
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
- Published in:
- 2019
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- Publication type:
- journal article
Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 285, doi. 10.1038/ejhg.2009.159
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- Publication type:
- Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 227, doi. 10.1038/ejhg.2009.162
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- Publication type:
- Article
Functional disomy of the Xq28 chromosome region.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 579, doi. 10.1038/sj.ejhg.5201384
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- Publication type:
- Article
Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 699, doi. 10.1038/sj.ejhg.5200879
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- Publication type:
- Article
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 5, p. 319, doi. 10.1038/sj.ejhg.5200591
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- Publication type:
- Article
Prenatal overgrowth and mosaic trisomy 15q25-qter including the IGF1 receptor gene.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 5, p. 393, doi. 10.1002/pd.891
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- Publication type:
- Article
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 511, doi. 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B
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- Publication type:
- Article
Distal Xq duplication and functional Xq disomy.
- Published in:
- 2009
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- Publication type:
- journal article
Distal Xq duplication and functional Xq disomy.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-4
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- Publication type:
- Article
Monosomy 18p.
- Published in:
- 2008
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- Publication type:
- journal article
Monosomy 18p.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-4
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- Publication type:
- Article
An 800 kb deletion at 17q23.2 including the MED13 ( THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 400, doi. 10.1002/ajmg.a.34222
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- Publication type:
- Article
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 6, p. 478, doi. 10.1034/j.1399-0004.1999.550614.x
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- Publication type:
- Article
Parental origin and mechanisms of formation of three eases of 12p tetrasomy.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 1, p. 41, doi. 10.1111/j.1399-0004.1996.tb02344.x
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- Publication type:
- Article
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
- Published in:
- Cytogenetic & Genome Research, 2017, v. 151, n. 3, p. 115, doi. 10.1159/000460278
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- Publication type:
- Article
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
- Published in:
- Cytogenetic & Genome Research, 2016, v. 147, n. 2/3, p. 103, doi. 10.1159/000442904
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- Publication type:
- Article
17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis.
- Published in:
- Cytogenetic & Genome Research, 2015, v. 144, n. 3, p. 178, doi. 10.1159/000369117
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- Publication type:
- Article
Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 383
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- Publication type:
- Article
Identification of germline mutations in the RB1 gene by denaturant gradient gel electrophoresis and polymerase chain reaction direct sequencing.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 7, p. 975
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- Publication type:
- Article
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.
- Published in:
- Clinical Genetics, 1989, v. 35, n. 6, p. 462, doi. 10.1111/j.1399-0004.1989.tb02973.x
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- Publication type:
- Article
6q1 monosomy: a distinctive syndrome.
- Published in:
- Clinical Genetics, 1988, v. 34, n. 1, p. 38, doi. 10.1111/j.1399-0004.1988.tb02613.x
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- Publication type:
- Article
Del 11p/aniridia complex. Report of three patients and review of 37 observations from the literature.
- Published in:
- Clinical Genetics, 1984, v. 26, n. 4, p. 356, doi. 10.1111/j.1399-0004.1984.tb01071.x
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- Publication type:
- Article
Trisomy 18qter and trisomy mapping of chromosome 18.
- Published in:
- Clinical Genetics, 1977, v. 12, n. 6, p. 361, doi. 10.1111/j.1399-0004.1977.tb00955.x
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- Publication type:
- Article
Trisomy 9q - a new syndrome.
- Published in:
- Clinical Genetics, 1975, v. 8, n. 5, p. 392, doi. 10.1111/j.1399-0004.1975.tb01530.x
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- Publication type:
- Article