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8 in total

1. Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia.

Authors: Ekkehart Lausch; Romy Keppler; Katja Hilbert; Valerie Cormier-Daire; Sarah Nikkel; Gen Nishimura; Sheila Unger; Jürgen Spranger; Andrea Superti-Furga; Bernhard Zabel
Journal: Am J Hum Genet Date: 2009-07-16 Impact factor: 11.025

2. An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: further definition of the phenotypic heterogeneity of LBR-bone dysplasias.

Authors: Nara Sobreira; Peggy Modaff; Gary Steel; Jing You; Sonia Nanda; Julie Hoover-Fong; David Valle; Richard M Pauli
Journal: Am J Med Genet A Date: 2014-10-27 Impact factor: 2.802

3. Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors: H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal: Z Kinderheilkd Date: 1974

Review 4. Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.

Authors: R S Lachman; D L Rimoin; J Spranger
Journal: Pediatr Radiol Date: 1988

5. Japanese type of spondylo-metaphyseal dysplasia.

Authors: T Hasegawa; K Kozlowski; G Nishimura; H Hara; Y Hasegawa; T Aso; S Koto; T Nagai; Y Tsuchiya
Journal: Pediatr Radiol Date: 1994

6. Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

Authors: Dong Li; David R Weber; Matthew A Deardorff; Hakon Hakonarson; Michael A Levine
Journal: Eur J Hum Genet Date: 2014-04-30 Impact factor: 4.246

7. Unusual bone dysplasia featuring severe platyspondyly and vertebral "coronal cleft" in infancy, and changes of metaphyseal chondrodysplasia in childhood.

Authors: G Currarino
Journal: Pediatr Radiol Date: 1986

Review 8. Metaphyseal chondrodysplasia.

Authors: J W Spranger
Journal: Postgrad Med J Date: 1977-08 Impact factor: 2.401

8 in total