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Results: 1 to 20 of 103

1.

Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination.

Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu-Amero SN, Moore GE, Black GC.

Clin Endocrinol (Oxf). 2012 Sep;77(3):335-42. doi: 10.1111/j.1365-2265.2012.04428.x. Review.

PMID:
22624670
[PubMed - indexed for MEDLINE]
2.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE.

J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec.

PMID:
23018678
[PubMed - indexed for MEDLINE]
Free Article
3.

The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway.

Hanson D, Murray PG, Black GC, Clayton PE.

Horm Res Paediatr. 2011;76(6):369-78. doi: 10.1159/000334392. Epub 2011 Nov 29. Review.

PMID:
22156540
[PubMed - indexed for MEDLINE]
Free Article
4.

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Meazza C, Lausch E, Pagani S, Bozzola E, Calcaterra V, Superti-Furga A, Silengo M, Bozzola M.

Ital J Pediatr. 2013 Mar 21;39:21. doi: 10.1186/1824-7288-39-21.

PMID:
23517720
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth.

Hanson D, Murray PG, O'Sullivan J, Urquhart J, Daly S, Bhaskar SS, Biesecker LG, Skae M, Smith C, Cole T, Kirk J, Chandler K, Kingston H, Donnai D, Clayton PE, Black GC.

Am J Hum Genet. 2011 Jul 15;89(1):148-53. doi: 10.1016/j.ajhg.2011.05.028. Epub 2011 Jul 7.

PMID:
21737058
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum?

Akawi NA, Ali BR, Hamamy H, Al-Hadidy A, Al-Gazali L.

Am J Med Genet A. 2011 Jun;155A(6):1236-45. doi: 10.1002/ajmg.a.34009. Epub 2011 May 5.

PMID:
21548126
[PubMed - indexed for MEDLINE]
7.

The 3M syndrome.

Huber C, Munnich A, Cormier-Daire V.

Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):143-51. doi: 10.1016/j.beem.2010.08.015.

PMID:
21396581
[PubMed - indexed for MEDLINE]
8.

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.

Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.

Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.

PMID:
19481195
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome.

Sasaki K, Okamoto N, Kosaki K, Yorifuji T, Shimokawa O, Mishima H, Yoshiura KI, Harada N.

Clin Genet. 2011 Nov;80(5):478-83. doi: 10.1111/j.1399-0004.2010.01599.x. Epub 2010 Dec 20.

PMID:
21166787
[PubMed - indexed for MEDLINE]
10.

Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation.

Demir K, Altıncık A, Böber E.

J Pediatr Endocrinol Metab. 2013;26(1-2):147-50. doi: 10.1515/jpem-2012-0239.

PMID:
23457316
[PubMed - indexed for MEDLINE]
11.

Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Maksimova N, Hara K, Miyashia A, Nikolaeva I, Shiga A, Nogovicina A, Sukhomyasova A, Argunov V, Shvedova A, Ikeuchi T, Nishizawa M, Kuwano R, Onodera O.

J Med Genet. 2007 Dec;44(12):772-8. Epub 2007 Aug 3.

PMID:
17675530
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Identifying biological pathways that underlie primordial short stature using network analysis.

Hanson D, Stevens A, Murray PG, Black GC, Clayton PE.

J Mol Endocrinol. 2014 Jun;52(3):333-44. doi: 10.1530/JME-14-0029. Epub 2014 Apr 7.

PMID:
24711643
[PubMed - in process]
Free PMC Article
13.

OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels.

Huber C, Fradin M, Edouard T, Le Merrer M, Alanay Y, Da Silva DB, David A, Hamamy H, van Hest L, Lund AM, Michaud J, Oley C, Patel C, Rajab A, Skidmore DL, Stewart H, Tauber M, Munnich A, Cormier-Daire V.

Hum Mutat. 2010 Jan;31(1):20-6. doi: 10.1002/humu.21150.

PMID:
19877176
[PubMed - indexed for MEDLINE]
14.

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature.

Al-Dosari MS, Al-Shammari M, Shaheen R, Faqeih E, Alghofely MA, Boukai A, Alkuraya FS.

J Pediatr. 2012 Jul;161(1):139-45.e1. doi: 10.1016/j.jpeds.2011.12.051. Epub 2012 Feb 9.

PMID:
22325252
[PubMed - indexed for MEDLINE]
15.

Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.

Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN.

J Pediatr. 2013 Jan;162(1):202-4.e1. doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10. Erratum in: J Pediatr. 2013 Jan;162(1):217.

PMID:
22974575
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Identification of mutations in CUL7 in 3-M syndrome.

Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Mégarbané A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V.

Nat Genet. 2005 Oct;37(10):1119-24. Epub 2005 Sep 4.

PMID:
16142236
[PubMed - indexed for MEDLINE]
17.

Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

Renes JS, Willemsen RH, Wagner A, Finken MJ, Hokken-Koelega AC.

J Clin Endocrinol Metab. 2013 Oct;98(10):3932-8. doi: 10.1210/jc.2013-2491. Epub 2013 Aug 8.

PMID:
23928670
[PubMed - indexed for MEDLINE]
18.

Children born small-for-gestational age: postnatal growth and hormonal status.

Albertsson-Wikland K, Boguszewski M, Karlberg J.

Horm Res. 1998;49 Suppl 2:7-13.

PMID:
9730665
[PubMed - indexed for MEDLINE]
19.

Hip dislocation in 3-M syndrome: risk of misdiagnosis.

Badina A, Pejin Z, Odent T, Buzescu A, Huber C, Cormier-Daire V, Glorion C, Pannier S.

Clin Dysmorphol. 2011 Apr;20(2):114-6. doi: 10.1097/MCD.0b013e328343f958. No abstract available.

PMID:
21383554
[PubMed - indexed for MEDLINE]
20.

Clinical utility gene card for: 3M syndrome.

Holder-Espinasse M, Irving M, Cormier-Daire V.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.32. Epub 2011 Mar 2. No abstract available.

PMID:
21364696
[PubMed - indexed for MEDLINE]
Free PMC Article

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