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Items: 1 to 20 of 219

1.
3.

Frontometaphyseal dysplasia with congenital urinary tract malformations.

Kanemura T, Orii T, Ohtani M.

Clin Genet. 1979 Dec;16(6):399-404.

PMID:
527247
4.
5.

Lenz-Majewski syndrome: Report of a case with novel mutation in PTDSS1 gene.

Tamhankar PM, Vasudevan L, Bansal V, Menon SR, Gawde HM, D'Souza A, Babu S, Kondurkar S, Adhia R, Das DK.

Eur J Med Genet. 2015 Aug;58(8):392-9. doi: 10.1016/j.ejmg.2015.06.002. Epub 2015 Jun 24.

PMID:
26117586
6.

Lenz-Majewski syndrome.

Gorlin RJ, Whitley CB.

Radiology. 1983 Oct;149(1):129-31.

PMID:
6611917
7.

A Japanese patient with a mild Lenz-Majewski syndrome.

Dateki S, Kondoh T, Nishimura G, Motomura K, Yoshiura K, Kinoshita A, Kuniba H, Koga Y, Moriuchi H.

J Hum Genet. 2007;52(8):686-9. Epub 2007 Jun 26.

PMID:
17593321
8.

Frontometaphyseal dysplasia.

Holt JF, Thompson GR, Arenberg IK.

Radiol Clin North Am. 1972 Aug;10(2):225-43. No abstract available.

PMID:
5044403
9.

The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings.

Lizcano-Gil LA, Garcia-Cruz D, Cantu JM, Fryns JP.

Genet Couns. 1994;5(4):387-92.

PMID:
7888143
10.

Radiological changes of frontometaphyseal dysplasia in the neonate.

Nishimura G, Takano H, Aihara T, Ohashi H, Fukushima Y, Satoh M.

Pediatr Radiol. 1995 Nov;25 Suppl 1:S143-6.

PMID:
8577509
11.

A Croatian case of the Schinzel-Giedion syndrome.

Culić V, Resic B, Oorthuys JW, Overweg-Plandsoen WC, Hennekam RC.

Genet Couns. 1996;7(1):21-5.

PMID:
8652084
12.

Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.

Quadrelli R, Vaglio A, Reyno S, Lemes A, Salazar D, Lachman RS, Wilcox WR.

Am J Med Genet. 2000 Nov 27;95(3):247-65.

PMID:
11102932
13.

The radiology of Coffin-Lowry syndrome.

Padley S, Hodgson SV, Sherwood T.

Br J Radiol. 1990 Jan;63(745):72-5. No abstract available.

PMID:
2306591
14.

Frontometaphyseal dysplasia: neonatal radiographic diagnosis.

Glass RB, Rosenbaum KN.

Am J Med Genet. 1995 May 22;57(1):1-5.

PMID:
7645585
15.

Osteocraniostenosis.

Verloes A, Narcy F, Grattagliano B, Delezoide AL, Guibaud P, Schaaps JP, Le Merrer M, Maroteaux P.

J Med Genet. 1994 Oct;31(10):772-8.

16.

Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.

Castori M, Pascolini G, Parisi V, Sana ME, Novelli A, Nürnberg P, Iascone M, Grammatico P.

Am J Med Genet A. 2015 Apr;167A(4):842-51. doi: 10.1002/ajmg.a.36983. Epub 2015 Feb 23.

PMID:
25708316
17.

[Craniodiaphyseal dysplasia, Lenz-Majewski type].

Okuyama T.

Ryoikibetsu Shokogun Shirizu. 2001;(33):507-8. Review. Japanese. No abstract available.

PMID:
11462541
18.

Frontometaphyseal dysplasia: evidence for autosomal dominant inheritance.

Kassner EG, Haller JO, Reddy VH, Mitarotundo A, Katz I.

AJR Am J Roentgenol. 1976 Dec;127(6):927-33.

PMID:
998829
19.

Carpal coalition with radioscaphoid synostosis and hypoplastic thumb.

Loveland DM, Carmichael KD.

Am J Orthop (Belle Mead NJ). 2011 Dec;40(12):E262-3.

PMID:
22268019
20.

[Clinical application of three-dimensional spiral CT in skeletal disorders].

Smet MH, Marchal G, Van Cleynenbreugel J, Suetens P, Verstreken K, Baert AL.

J Belge Radiol. 1995 Apr;78(2):110-3. Dutch.

PMID:
7601812

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