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Items: 1 to 20 of 113

1.

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.

2.

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
3.

Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Maksimova N, Hara K, Nikolaeva I, Chun-Feng T, Usui T, Takagi M, Nishihira Y, Miyashita A, Fujiwara H, Oyama T, Nogovicina A, Sukhomyasova A, Potapova S, Kuwano R, Takahashi H, Nishizawa M, Onodera O.

J Med Genet. 2010 Aug;47(8):538-48. doi: 10.1136/jmg.2009.074815. Epub 2010 Jun 24.

4.

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
5.

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
6.

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
7.

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.

8.

Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

Le Merrer M, Brauner R, Maroteaux P.

J Med Genet. 1991 Mar;28(3):186-91.

9.

Mental retardation, unusual face, and intrauterine growth retardation: a new recessive syndrome?

Pitt DB, Rogers JG, Danks DM.

Am J Med Genet. 1984 Oct;19(2):307-13.

PMID:
6542309
10.

Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.

Majewski F, Goecke T.

Am J Med Genet. 1982 May;12(1):7-21. Review. No abstract available.

PMID:
7046443
11.

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
12.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Huber C, Delezoide AL, Guimiot F, Baumann C, Malan V, Le Merrer M, Da Silva DB, Bonneau D, Chatelain P, Chu C, Clark R, Cox H, Edery P, Edouard T, Fano V, Gibson K, Gillessen-Kaesbach G, Giovannucci-Uzielli ML, Graul-Neumann LM, van Hagen JM, van Hest L, Horovitz D, Melki J, Partsch CJ, Plauchu H, Rajab A, Rossi M, Sillence D, Steichen-Gersdorf E, Stewart H, Unger S, Zenker M, Munnich A, Cormier-Daire V.

Eur J Hum Genet. 2009 Mar;17(3):395-400. doi: 10.1038/ejhg.2008.200. Epub 2008 Oct 29.

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
14.

Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations.

Hasegawa K, Tanaka H, Higuchi Y, Yamashita M, Tsukahara H.

J Pediatr Endocrinol Metab. 2016 Feb;29(2):241-6. doi: 10.1515/jpem-2015-0272.

PMID:
26488604
15.

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families.

Shalev SA, Spiegel R, Borochowitz ZU.

Eur J Med Genet. 2012 Apr;55(4):256-64. doi: 10.1016/j.ejmg.2012.02.011. Epub 2012 Mar 3.

PMID:
22440536
16.

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H.

Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14.

17.

Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.

Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L.

Neurology. 2002 Jan 22;58(2):231-6.

PMID:
11805249
18.
19.

Disruption of the Fbxw8 gene results in pre- and postnatal growth retardation in mice.

Tsutsumi T, Kuwabara H, Arai T, Xiao Y, Decaprio JA.

Mol Cell Biol. 2008 Jan;28(2):743-51. Epub 2007 Nov 12.

20.

Pre- and post-natal growth in two sisters with 3-M syndrome.

Lugli L, Bertucci E, Mazza V, Elmakky A, Ferrari F, Neuhaus C, Percesepe A.

Eur J Med Genet. 2016 Apr;59(4):232-6. doi: 10.1016/j.ejmg.2016.01.009. Epub 2016 Feb 2.

PMID:
26850509

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