Weaver syndrome.

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超能文献

作者信息

Cole T R, Dennis N R, Hughes H E

机构信息

Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff.

出版信息

J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332.

DOI:10.1136/jmg.29.5.332

PMID:1583661

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015954/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f239/1015954/def4ca42a2b5/jmedgene00019-0046-a.jpg

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Weaver syndrome.

J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332.

The syndromes of Marshall and Weaver.

J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Am J Med Genet. 1987 May;27(1):87-97. doi: 10.1002/ajmg.1320270110.

Novel findings in a patient with Weaver or a Weaver-like syndrome.

Am J Med Genet. 1996 May 17;63(2):378-81. doi: 10.1002/(SICI)1096-8628(19960517)63:2<378::AID-AJMG10>3.0.CO;2-H.

Further delineation of Weaver syndrome.

J Pediatr. 1986 Feb;108(2):228-35. doi: 10.1016/s0022-3476(86)80988-x.

Autosomal dominant inheritance of Weaver syndrome.

J Med Genet. 1997 May;34(5):418-9. doi: 10.1136/jmg.34.5.418.

[Diagnostic image (132). A 3-year old boy with growth retardation].

Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):606-7.

Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review.

Pediatr Neurosurg. 2003 May;38(5):238-43. doi: 10.1159/000069822.

Myhre syndrome: new reports, review, and differential diagnosis.

J Med Genet. 2003 Jul;40(7):546-51. doi: 10.1136/jmg.40.7.546.

A new autosomal recessive disorder resembling Weaver syndrome.

Am J Med Genet. 1989 Aug;33(4):479-82. doi: 10.1002/ajmg.1320330413.

引用本文的文献

A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.

JCI Insight. 2024 Jan 9;9(1):e173392. doi: 10.1172/jci.insight.173392.

Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Front Pediatr. 2020 Oct 30;8:574857. doi: 10.3389/fped.2020.574857. eCollection 2020.

New Insights into the Control of Cell Fate Choices and Differentiation by Retinoic Acid in Cranial, Axial and Caudal Structures.

Biomolecules. 2019 Dec 11;9(12):860. doi: 10.3390/biom9120860.

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

Clin Pediatr Endocrinol. 2004;13(1):17-23. doi: 10.1297/cpe.13.17. Epub 2004 Jul 7.

Histone code, human growth and cancer.

Oncotarget. 2012 Jan;3(1):1-2. doi: 10.18632/oncotarget.435.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385.

Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Childs Nerv Syst. 2008 Oct;24(10):1155-63. doi: 10.1007/s00381-008-0608-6. Epub 2008 Mar 28.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Am J Hum Genet. 2003 Jan;72(1):132-43. doi: 10.1086/345647. Epub 2002 Dec 2.

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

J Med Genet. 1998 Apr;35(4):323-7. doi: 10.1136/jmg.35.4.323.

Autosomal dominant inheritance of Weaver syndrome.

J Med Genet. 1997 May;34(5):418-9. doi: 10.1136/jmg.34.5.418.

本文引用的文献

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

Clin Genet. 1980 Dec;18(6):413-6. doi: 10.1111/j.1399-0004.1980.tb01785.x.

The Weaver-Smith syndrome.

J Pediatr. 1980 Dec;97(6):962-4. doi: 10.1016/s0022-3476(80)80436-7.

The syndromes of Marshall and Weaver.

J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.

Accelerated bone maturation syndrome of the Weaver type.

Eur J Pediatr. 1981 Nov;137(3):329-33. doi: 10.1007/BF00443267.

The Weaver syndrome: a rare type of primordial overgrowth.

Eur J Pediatr. 1981 Nov;137(3):277-82. doi: 10.1007/BF00443257.

Two children with cerebral gigantism and congenital primary hypothyroidism.

Dev Med Child Neurol. 1981 Apr;23(2):242-6. doi: 10.1111/j.1469-8749.1981.tb02448.x.

Siblings with Weaver syndrome.

J Pediatr. 1983 Apr;102(4):595-7. doi: 10.1016/s0022-3476(83)80195-4.

A Weaver-like syndrome in a Japanese boy.

Clin Genet. 1984 Jan;25(1):73-8. doi: 10.1111/j.1399-0004.1984.tb00466.x.

[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].

J Genet Hum. 1983 Dec;31 Suppl 5:385-95.

The Weaver syndrome in a girl.

Eur J Pediatr. 1983 Oct;141(1):58-9. doi: 10.1007/BF00445673.

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相似文献

Weaver syndrome.

J Med Genet. 1992 May;29(5):332-7. doi: 10.1136/jmg.29.5.332.

The syndromes of Marshall and Weaver.

J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Am J Med Genet. 1987 May;27(1):87-97. doi: 10.1002/ajmg.1320270110.

Novel findings in a patient with Weaver or a Weaver-like syndrome.

Am J Med Genet. 1996 May 17;63(2):378-81. doi: 10.1002/(SICI)1096-8628(19960517)63:2<378::AID-AJMG10>3.0.CO;2-H.

Further delineation of Weaver syndrome.

J Pediatr. 1986 Feb;108(2):228-35. doi: 10.1016/s0022-3476(86)80988-x.

Autosomal dominant inheritance of Weaver syndrome.

J Med Genet. 1997 May;34(5):418-9. doi: 10.1136/jmg.34.5.418.

[Diagnostic image (132). A 3-year old boy with growth retardation].

Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):606-7.

Craniocervical anomalies in Dubowitz syndrome. Three cases and a literature review.

Pediatr Neurosurg. 2003 May;38(5):238-43. doi: 10.1159/000069822.

Myhre syndrome: new reports, review, and differential diagnosis.

J Med Genet. 2003 Jul;40(7):546-51. doi: 10.1136/jmg.40.7.546.

A new autosomal recessive disorder resembling Weaver syndrome.

Am J Med Genet. 1989 Aug;33(4):479-82. doi: 10.1002/ajmg.1320330413.

引用本文的文献

A mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition.

JCI Insight. 2024 Jan 9;9(1):e173392. doi: 10.1172/jci.insight.173392.

Overgrowth Syndromes-Evaluation, Diagnosis, and Management.

Front Pediatr. 2020 Oct 30;8:574857. doi: 10.3389/fped.2020.574857. eCollection 2020.

New Insights into the Control of Cell Fate Choices and Differentiation by Retinoic Acid in Cranial, Axial and Caudal Structures.

Biomolecules. 2019 Dec 11;9(12):860. doi: 10.3390/biom9120860.

Hormonal and genetical assessment of a Japanese girl with weaver syndrome.

Clin Pediatr Endocrinol. 2004;13(1):17-23. doi: 10.1297/cpe.13.17. Epub 2004 Jul 7.

Histone code, human growth and cancer.

Oncotarget. 2012 Jan;3(1):1-2. doi: 10.18632/oncotarget.435.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385.

Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.

Childs Nerv Syst. 2008 Oct;24(10):1155-63. doi: 10.1007/s00381-008-0608-6. Epub 2008 Mar 28.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Am J Hum Genet. 2003 Jan;72(1):132-43. doi: 10.1086/345647. Epub 2002 Dec 2.

Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

J Med Genet. 1998 Apr;35(4):323-7. doi: 10.1136/jmg.35.4.323.

Autosomal dominant inheritance of Weaver syndrome.

J Med Genet. 1997 May;34(5):418-9. doi: 10.1136/jmg.34.5.418.

本文引用的文献

Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia.

Clin Genet. 1980 Dec;18(6):413-6. doi: 10.1111/j.1399-0004.1980.tb01785.x.

The Weaver-Smith syndrome.

J Pediatr. 1980 Dec;97(6):962-4. doi: 10.1016/s0022-3476(80)80436-7.

The syndromes of Marshall and Weaver.

J Med Genet. 1980 Jun;17(3):174-8. doi: 10.1136/jmg.17.3.174.

Accelerated bone maturation syndrome of the Weaver type.

Eur J Pediatr. 1981 Nov;137(3):329-33. doi: 10.1007/BF00443267.

The Weaver syndrome: a rare type of primordial overgrowth.

Eur J Pediatr. 1981 Nov;137(3):277-82. doi: 10.1007/BF00443257.

Two children with cerebral gigantism and congenital primary hypothyroidism.

Dev Med Child Neurol. 1981 Apr;23(2):242-6. doi: 10.1111/j.1469-8749.1981.tb02448.x.

Siblings with Weaver syndrome.

J Pediatr. 1983 Apr;102(4):595-7. doi: 10.1016/s0022-3476(83)80195-4.

A Weaver-like syndrome in a Japanese boy.

Clin Genet. 1984 Jan;25(1):73-8. doi: 10.1111/j.1399-0004.1984.tb00466.x.

[Acceleration of bone maturation and dysmorphic syndrome in 2 siblings (Marshall-Weaver syndrome)].

J Genet Hum. 1983 Dec;31 Suppl 5:385-95.

The Weaver syndrome in a girl.

Eur J Pediatr. 1983 Oct;141(1):58-9. doi: 10.1007/BF00445673.