15号染色体缺失是普拉德-威利综合征的病因。 - Suppr

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Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

作者信息

Ledbetter D H, Riccardi V M, Airhart S D, Strobel R J, Keenan B S, Crawford J D

出版信息

N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.

DOI:10.1056/NEJM198102053040604

PMID:7442771

Abstract

摘要

相似文献

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.

The Prader-Willi syndrome and interstitial deletion of chromosome 15: high-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants.

Jinrui Idengaku Zasshi. 1984 Mar;29(1):1-6. doi: 10.1007/BF01876751.

Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population.

Am J Med Genet. 1984 Feb;17(2):485-95. doi: 10.1002/ajmg.1320170211.

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Am J Med Genet. 1990 Mar;35(3):333-49. doi: 10.1002/ajmg.1320350307.

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.

Eur J Paediatr Neurol. 2000;4(1):39-43. doi: 10.1053/ejpn.1999.0259.

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Am J Med Genet. 1992 Jan 1;42(1):109-11. doi: 10.1002/ajmg.1320420122.

The cytogenetic controversy in the Prader-Labhart-Willi syndrome.

Am J Med Genet. 1982 Dec;13(4):431-9. doi: 10.1002/ajmg.1320130412.

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes.

Am J Med Genet. 1985 Feb;20(2):255-63. doi: 10.1002/ajmg.1320200208.

Prader--Willi syndrome associated with an interstitial deletion of chromosome 15.

Johns Hopkins Med J. 1982 Nov;151(5):237-42.

[High-resolution cytogenetic study of a patient with Prader-Willi syndrome].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1993 Jun;15(3):217-20.

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Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome.

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Extended application of PGT-M strategies for small pathogenic CNVs.

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Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

作者信息

Ledbetter D H, Riccardi V M, Airhart S D, Strobel R J, Keenan B S, Crawford J D

出版信息

N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.

DOI:10.1056/NEJM198102053040604

PMID:7442771

Abstract

摘要

相似文献

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome.

N Engl J Med. 1981 Feb 5;304(6):325-9. doi: 10.1056/NEJM198102053040604.

The Prader-Willi syndrome and interstitial deletion of chromosome 15: high-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants.

Jinrui Idengaku Zasshi. 1984 Mar;29(1):1-6. doi: 10.1007/BF01876751.

Deletion of chromosome 15 (q11-13) in a Prader-Labhart-Willi syndrome clinic population.

Am J Med Genet. 1984 Feb;17(2):485-95. doi: 10.1002/ajmg.1320170211.

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

Am J Med Genet. 1990 Mar;35(3):333-49. doi: 10.1002/ajmg.1320350307.

Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.

Eur J Paediatr Neurol. 2000;4(1):39-43. doi: 10.1053/ejpn.1999.0259.

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.

Am J Med Genet. 1992 Jan 1;42(1):109-11. doi: 10.1002/ajmg.1320420122.

The cytogenetic controversy in the Prader-Labhart-Willi syndrome.

Am J Med Genet. 1982 Dec;13(4):431-9. doi: 10.1002/ajmg.1320130412.

Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes.

Am J Med Genet. 1985 Feb;20(2):255-63. doi: 10.1002/ajmg.1320200208.

Prader--Willi syndrome associated with an interstitial deletion of chromosome 15.

Johns Hopkins Med J. 1982 Nov;151(5):237-42.

[High-resolution cytogenetic study of a patient with Prader-Willi syndrome].

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1993 Jun;15(3):217-20.

引用本文的文献

Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome.

Mol Cytogenet. 2025 Aug 29;18(1):22. doi: 10.1186/s13039-025-00726-3.

Effects of supplemental oxytocin on feeding and swallowing maturation in rats.

Open Vet J. 2025 Mar;15(3):1424-1439. doi: 10.5455/OVJ.2025.v15.i3.33. Epub 2025 Mar 31.

DNA methylation in human diseases.

Heliyon. 2024 Jun 4;10(11):e32366. doi: 10.1016/j.heliyon.2024.e32366. eCollection 2024 Jun 15.

Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.

Orphanet J Rare Dis. 2024 Jun 20;19(1):240. doi: 10.1186/s13023-024-03157-2.

Extended application of PGT-M strategies for small pathogenic CNVs.

J Assist Reprod Genet. 2024 Mar;41(3):739-750. doi: 10.1007/s10815-024-03028-6. Epub 2024 Jan 24.

Central precocious puberty in Prader-Willi syndrome: a narrative review.

Front Endocrinol (Lausanne). 2023 May 8;14:1150323. doi: 10.3389/fendo.2023.1150323. eCollection 2023.

Chromosomal Microarray Study in Prader-Willi Syndrome.

Int J Mol Sci. 2023 Jan 7;24(2):1220. doi: 10.3390/ijms24021220.

Genetic conditions of short stature: A review of three classic examples.

Front Endocrinol (Lausanne). 2022 Oct 21;13:1011960. doi: 10.3389/fendo.2022.1011960. eCollection 2022.

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Orphanet J Rare Dis. 2022 Jun 13;17(1):221. doi: 10.1186/s13023-022-02302-z.

Proteins and proteases of Prader-Willi syndrome: a comprehensive review and perspectives.

Biosci Rep. 2022 Jun 30;42(6). doi: 10.1042/BSR20220610.