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Literature DB >> 9758608

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.

L L Field, R Tobias, W P Robinson, R Paisey, S Bain.

Abstract

Entities: Disease

Mesh：

Substances：
HLA Antigens

Year: 1998 PMID： 9758608 PMCID： PMC1377482 DOI： 10.1086/302050

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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Cited

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8 in total

1. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Authors: Irini Manoli; Gretchen Golas; Wendy Westbroek; Thierry Vilboux; Thomas C Markello; Wendy Introne; Dawn Maynard; Ben Pederson; Ekaterini Tsilou; Michael B Jordan; P Suzanne Hart; James G White; William A Gahl; Marjan Huizing
Journal: Am J Med Genet A Date: 2010-06 Impact factor: 2.802

2. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Authors: R Varki; S Sadowski; E Pfendner; J Uitto
Journal: J Med Genet Date: 2006-02-10 Impact factor: 6.318

3. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

Authors: Siddharth Prakash; Scott A LeMaire; Molly Bray; Dianna M Milewicz; John W Belmont
Journal: Am J Med Genet A Date: 2010-09 Impact factor: 2.802

4. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Authors: Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Journal: Am J Hum Genet Date: 2001-11-27 Impact factor: 11.025

5. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

Authors: Gonçalo R Abecasis; Rachel A Burt; Diana Hall; Sylvia Bochum; Kimberly F Doheny; S Laura Lundy; Marie Torrington; J Louw Roos; Joseph A Gogos; Maria Karayiorgou
Journal: Am J Hum Genet Date: 2004-01-28 Impact factor: 11.025

Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects.

1. Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

2. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

3. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

4. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

5. Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.

6. Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

7. Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

8. Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.