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Literature DB >> 7616544

Craniometaphyseal dysplasia (CMD), autosomal dominant form.

P Beighton¹.

Abstract

Entities: Disease

Mesh：

Year: 1995 PMID： 7616544 PMCID： PMC1050432 DOI： 10.1136/jmg.32.5.370

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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27 in total

1. Radiology of the autosomal dominant form of craniometaphyseal dysplasia.

Authors: P C Spiro; H Hamersma; P Beighton
Journal: S Afr Med J Date: 1975-05-17

2. Familial osteodystrophy of the skull and face.

Authors: E C LEHMANN
Journal: J Bone Joint Surg Br Date: 1957-05

3. [Osseous leontiasis in the child; probable partial osteopetrosis].

Authors: J A LIEVRE; H FISCHGOLD
Journal: Presse Med Date: 1956-04-25 Impact factor: 1.228

4. Cranial manifestations of familial metaphyseal dysplasia.

Authors: P A MORI; J F HOLT
Journal: Radiology Date: 1956-03 Impact factor: 11.105

5. Dominant craniometaphyseal dysplasia--a family study over five generations.

Authors: D B Taylor; P Sprague
Journal: Australas Radiol Date: 1989-02

6. Cranial metaphyseal dysplasia. Otolaryngologic aspects.

Authors: S E Stool; V G Caruso
Journal: Arch Otolaryngol Date: 1973-05

7. Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease).

Authors: M S Raad; P Beighton
Journal: Clin Genet Date: 1978-11 Impact factor: 4.438

8. Craniofacial surgery in craniometaphyseal dysplasia.

Authors: D R Millard; D O Maisels; J H Batstone; B W Yates
Journal: Am J Surg Date: 1967-05 Impact factor: 2.565

9. Familial metaphyseal dysplasia. Review of the clinical and radiologic feature of Pyle's disease.

Authors: M W Ross; D H Altman
Journal: Clin Pediatr (Phila) Date: 1967-03 Impact factor: 1.168

Review 10. A review of the osteopetroses.

Authors: P Beighton; F Horan; H Hamersma
Journal: Postgrad Med J Date: 1977-08 Impact factor: 2.401

11 in total

1. Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia.

Authors: Allison Zajac; Seung-Hak Baek; Imad Salhab; Melissa A Radecki; Sukwha Kim; Hakon Hakonarson; Hyun-Duck Nah
Journal: Am J Med Genet A Date: 2010-03 Impact factor: 2.802

Review 2. Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias.

Authors: Ananya Panda; Shivanand Gamanagatti; Manisha Jana; Arun Kumar Gupta
Journal: World J Radiol Date: 2014-10-28

3. Biochemical and genetic analysis of ANK in arthritis and bone disease.

Authors: Kyle A Gurley; Richard J Reimer; David M Kingsley
Journal: Am J Hum Genet Date: 2006-10-16 Impact factor: 11.025

4. The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Authors: P Nürnberg; S Tinschert; M Mrug; J Hampe; C R Müller; E Fuhrmann; H S Braun; A Reis
Journal: Am J Hum Genet Date: 1997-10 Impact factor: 11.025

5. Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report.

Authors: Ash Singhal; David D Cochrane
Journal: Childs Nerv Syst Date: 2008-01-18 Impact factor: 1.475