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Items: 1 to 20 of 133

1.

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
2.

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
3.
4.

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
5.

Kyphomelic dysplasia: a report of a family with an autosomal dominant pattern.

Toledo C, Navarro-Barros R, Alba L, Muñoz E.

Ann Genet. 1999;42(3):170-3.

PMID:
10526661
6.

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
7.

Dyssegmental dysplasias: clinical, radiographic, and morphologic evidence of heterogeneity.

Aleck KA, Grix A, Clericuzio C, Kaplan P, Adomian GE, Lachman R, Rimoin DL.

Am J Med Genet. 1987 Jun;27(2):295-312.

PMID:
3605216
8.

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

Klinge L, Schaper J, Wieczorek D, Voit T.

Neuropediatrics. 2002 Dec;33(6):309-13.

PMID:
12571786
9.

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B.

Am J Med Genet. 1996 May 3;63(1):80-3.

PMID:
8723091
10.

Heterogeneity of metatropic dysplasia.

Beck M, Roubicek M, Rogers JG, Naumoff P, Spranger J.

Eur J Pediatr. 1983 Jun-Jul;140(3):231-7.

PMID:
6628444
11.
12.

Parental consanguinity in two sibs with omodysplasia.

Baxová A, Maroteaux P, Barosová J, Netriová I.

Am J Med Genet. 1994 Feb 1;49(3):263-5.

PMID:
8209882
13.

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: a congenital familial skeletal dysplasia with distinctive features and histopathology.

Borochowitz Z, Langer LO Jr, Gruber HE, Lachman R, Katznelson MB, Rimoin DL.

Am J Med Genet. 1993 Feb 1;45(3):320-6.

PMID:
8434618
14.

A new autosomal recessive skeletal dysplasia syndrome--prenatal diagnosis and histopathology.

Fuhrmann W, Fuhrmann-Rieger A, Jovanović V, Rehder H.

Prog Clin Biol Res. 1982;104:519-24. No abstract available.

PMID:
7163289
15.

Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration.

Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL.

Am J Med Genet. 1998 Apr 28;77(1):63-71.

PMID:
9557897
16.

[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
17.

A distinct skeletal dysplasia in an infant from consanguineous parents.

Cantú JM, Manzano C, Pagán P, García-Cruz D, Hernández A.

Birth Defects Orig Artic Ser. 1977;13(3B):139-47.

PMID:
890089
18.

The Dyggve-Melchior-Clausen syndrome in Indian siblings.

Winship WS, Rubin DL.

Clin Genet. 1992 Nov;42(5):240-5.

PMID:
1486701
19.

Dyssegmental dysplasia with bone entrapment and visceral ramifications.

Wainwright H, Beighton P.

Pediatr Dev Pathol. 2010 Jan-Feb;13(1):46-9. doi: 10.2350/09-03-0616-CR.1.

PMID:
19586134
20.

Autosomal recessive omodysplasia.

al Gazali LI, Abou al-Asaad F.

Clin Dysmorphol. 1995 Jan;4(1):52-6. Review. No abstract available.

PMID:
7735505
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