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Results: 1 to 20 of 22

1.

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O.

Am J Med Genet A. 2014 Jul;164A(7):1635-41. doi: 10.1002/ajmg.a.36502. Epub 2014 Mar 26.

PMID:
24677493
[PubMed - in process]
2.

Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.

Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.

Hum Mutat. 2013 Oct;34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26.

PMID:
23824674
[PubMed - indexed for MEDLINE]
3.

PAPSS2 mutations cause autosomal recessive brachyolmia.

Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.

J Med Genet. 2012 Aug;49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11.

PMID:
22791835
[PubMed - indexed for MEDLINE]
4.

Wild-type and brachyolmia-causing mutant TRPV4 channels respond directly to stretch force.

Loukin S, Zhou X, Su Z, Saimi Y, Kung C.

J Biol Chem. 2010 Aug 27;285(35):27176-81. doi: 10.1074/jbc.M110.143370. Epub 2010 Jul 6.

PMID:
20605796
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity.

Bertola DR, Antequera R, Rodovalho MJ, Honjo RS, Albano LM, Furquim IM, Oliveira LA, Kim CA.

Am J Med Genet A. 2009 Mar;149A(3):532-4. doi: 10.1002/ajmg.a.32661. No abstract available.

PMID:
19213025
[PubMed - indexed for MEDLINE]
6.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH.

Nat Genet. 2008 Aug;40(8):999-1003. doi: 10.1038/ng.166. Epub 2008 Jun 29.

PMID:
18587396
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Brachyolmia and spinal stenosis.

Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M.

Am J Med Genet A. 2003 Jul 15;120A(2):272-5.

PMID:
12833413
[PubMed - indexed for MEDLINE]
8.

Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?

Tüysüz B, Ungür S.

Am J Med Genet A. 2003 Jun 15;119A(3):375-80.

PMID:
12784309
[PubMed - indexed for MEDLINE]
9.

Two sibs with brachyolmia type Hobaek: five year follow-up through puberty.

Hoo JJ, Oliphant M.

Am J Med Genet A. 2003 Jan 1;116A(1):80-4.

PMID:
12476457
[PubMed - indexed for MEDLINE]
10.

Familial brachyolmia.

Darcan S, Yalman O, Coker M, Demir N, Ozkinay F.

J Pediatr Endocrinol Metab. 2000 Jul-Aug;13(7):955-8.

PMID:
10968486
[PubMed - indexed for MEDLINE]
11.

A case of brachyolmia.

Karabiyik N, Oğuz F, Sidal M, Hekim N, Kayserili H.

Turk J Pediatr. 1997 Jul-Sep;39(3):415-20.

PMID:
9339123
[PubMed - indexed for MEDLINE]
12.

Toledo type brachyolmia.

Toledo S.

Arch Dis Child. 1996 Feb;74(2):184. No abstract available.

PMID:
8660094
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Brachyolmia: a report of two cases.

Ikegawa S, Nakamura K, Nakamura S, Nagano A.

J Pediatr Orthop. 1995 Jan-Feb;15(1):105-7.

PMID:
7883917
[PubMed - indexed for MEDLINE]
14.

Toledo type brachyolmia.

Grain L, Duke O, Thompson G, Davies EG.

Arch Dis Child. 1994 Nov;71(5):448-9.

PMID:
7826119
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

[Brachyolmia at autosomal recessive transmission].

Soua H, Sassi N, Karboul L, Ayadi A, Boussoffara R, Belkhir Y, Lengliz N, Hamza H, Sfar MT, Maroteaux P.

Arch Pediatr. 1994 May;1(5):505-7. French.

PMID:
7951838
[PubMed - indexed for MEDLINE]
16.

Brachyolmia: an autosomal dominant form.

Gardner J, Beighton P.

Am J Med Genet. 1994 Feb 1;49(3):308-12.

PMID:
8209891
[PubMed - indexed for MEDLINE]
17.

Spondylar dysplasia (SD)/brachyolmia (BO), type I: search for qualitative anomalies in glycosaminoglycans (GAG)

Toledo SP.

Clin Genet. 1992 Oct;42(4):213-4. No abstract available.

PMID:
1424247
[PubMed - indexed for MEDLINE]
18.

Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.

Sewell AC, Wern C, Pontz BF.

Clin Genet. 1991 Oct;40(4):312-7.

PMID:
1836753
[PubMed - indexed for MEDLINE]
19.

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Shohat M, Lachman R, Gruber HE, Rimoin DL.

Am J Med Genet. 1989 Jun;33(2):209-19. Review.

PMID:
2669482
[PubMed - indexed for MEDLINE]
20.

Brachyolmia, recessive type (Hobaek): a clinical, radiographic, and histochemical study.

Horton WA, Langer LO, Collins DL, Dwyer C.

Am J Med Genet. 1983 Oct;16(2):201-11.

PMID:
6650565
[PubMed - indexed for MEDLINE]

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