Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 101

1.

Osteoglophonic dysplasia: A 'common' mutation in a rare disease.

Sow AJ, Ramli R, Latiff ZA, Ichikawa S, Gray AK, Nordin R, Abd Jabar MN, Primuharsa Putra SH, Siar CH, Econs MJ.

Clin Genet. 2010 Aug;78(2):197-8. doi: 10.1111/j.1399-0004.2010.01382.x. Epub 2010 Mar 5. No abstract available.

PMID:
20236123
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.

Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, Pitukcheewanont P, White KE.

Am J Med Genet A. 2006 Mar 1;140(5):537-9. No abstract available.

PMID:
16470795
[PubMed - indexed for MEDLINE]
3.

[Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism].

Zhang Q, Jiang HO, Quan QL, Li J, He T, Huang XS.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Dec;28(6):705-7. doi: 10.3760/cma.j.issn.1003-9406.2011.06.024. Chinese.

PMID:
22161110
[PubMed - indexed for MEDLINE]
4.

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO.

Am J Hum Genet. 2002 Feb;70(2):472-86. Epub 2002 Jan 4.

PMID:
11781872
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E, Heuertz S, El Ghouzzi V, Martinovic J, Renier D, Le Merrer M, Bonaventure J.

Eur J Hum Genet. 2006 Mar;14(3):289-98.

PMID:
16418739
[PubMed - indexed for MEDLINE]
Free Article
6.

Osteoglophonic dysplasia: a case report.

Shankar VN, Ajila V, Kumar G.

J Oral Sci. 2010 Mar;52(1):167-71.

PMID:
20339250
[PubMed - indexed for MEDLINE]
Free Article
7.

Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.

Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Jüppner H.

N Engl J Med. 1996 Sep 5;335(10):708-14.

PMID:
8703170
[PubMed - indexed for MEDLINE]
Free Article
8.

An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.

Kress W, Petersen B, Collmann H, Grimm T.

Cytogenet Cell Genet. 2000;91(1-4):138-40.

PMID:
11173846
[PubMed - indexed for MEDLINE]
9.

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Korkmaz HA, Hazan F, Dizdarer C, Tükün A.

J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):220-2. doi: 10.4274/jcrpe.787. Epub 2012 Nov 12.

PMID:
23149434
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.

Al-Hashmi N, Imtiaz F, Ramzan K, Faden M, Shuaib T, Al-Otaibi L, Al-Hemidan A, Al-Owain M.

Clin Dysmorphol. 2013 Jan;22(1):39-41. doi: 10.1097/MCD.0b013e32835c297e. No abstract available.

PMID:
23188137
[PubMed - indexed for MEDLINE]
11.

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.

Alazami AM, Al-Owain M, Alzahrani F, Shuaib T, Al-Shamrani H, Al-Falki YH, Al-Qahtani SM, Alsheddi T, Colak D, Alkuraya FS.

Hum Mutat. 2012 Oct;33(10):1429-34. doi: 10.1002/humu.22175. Epub 2012 Aug 30.

PMID:
22865833
[PubMed - indexed for MEDLINE]
12.

Biallelic SEMA3A defects cause a novel type of syndromic short stature.

Hofmann K, Zweier M, Sticht H, Zweier C, Wittmann W, Hoyer J, Uebe S, van Haeringen A, Thiel CT, Ekici AB, Reis A, Rauch A.

Am J Med Genet A. 2013 Nov;161A(11):2880-9. doi: 10.1002/ajmg.a.36250. Epub 2013 Oct 3.

PMID:
24124006
[PubMed - indexed for MEDLINE]
13.

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.

Li C, Chen L, Iwata T, Kitagawa M, Fu XY, Deng CX.

Hum Mol Genet. 1999 Jan;8(1):35-44.

PMID:
9887329
[PubMed - indexed for MEDLINE]
Free Article
14.

Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

Salvatori R, Hayashida CY, Aguiar-Oliveira MH, Phillips JA 3rd, Souza AH, Gondo RG, Toledo SP, Conceicão MM, Prince M, Maheshwari HG, Baumann G, Levine MA.

J Clin Endocrinol Metab. 1999 Mar;84(3):917-23.

PMID:
10084571
[PubMed - indexed for MEDLINE]
15.

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

Cavanagh JA, Tammen I, Windsor PA, Bateman JF, Savarirayan R, Nicholas FW, Raadsma HW.

Mamm Genome. 2007 Nov;18(11):808-14. Epub 2007 Oct 22.

PMID:
17952705
[PubMed - indexed for MEDLINE]
16.

Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.

White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ.

Am J Hum Genet. 2005 Feb;76(2):361-7. Epub 2004 Dec 28.

PMID:
15625620
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

Godowski PJ, Leung DW, Meacham LR, Galgani JP, Hellmiss R, Keret R, Rotwein PS, Parks JS, Laron Z, Wood WI.

Proc Natl Acad Sci U S A. 1989 Oct;86(20):8083-7.

PMID:
2813379
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.

PMID:
21683322
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.

Bashyam MD, Chaudhary AK, Reddy EC, Reddy V, Acharya V, Nagarajaram HA, Devi AR, Bashyam L, Dalal AB, Gupta N, Kabra M, Agarwal M, Phadke SR, Tainwala R, Kumar R, Hariharan SV.

Br J Dermatol. 2012 Apr;166(4):819-29. doi: 10.1111/j.1365-2133.2011.10707.x. Epub 2012 Mar 5.

PMID:
22032522
[PubMed - indexed for MEDLINE]
20.

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

Rauen KA, Tidyman WE, Estep AL, Sampath S, Peltier HM, Bale SJ, Lacassie Y.

Am J Med Genet A. 2010 Apr;152A(4):807-14. doi: 10.1002/ajmg.a.33342.

PMID:
20358587
[PubMed - indexed for MEDLINE]
Free PMC Article

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk