PMC Links for Books (Select 1494104) - PMC

Select item 74972891.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 66472672.

Prenatal findings in a fetus with X-linked recessive type of chondrodysplasia punctata (CDPX1): a case report with novel mutation

Guannan He, Yan Yin, Jing Zhao, Xueyan Wang, Jiaxiang Yang, Xi Chen, Li Ding, Yan Bai

BMC Pediatr. 2019; 19: 250. Published online 2019 Jul 23. doi: 10.1186/s12887-019-1629-x

PMCID:: PMC6647267

Abstract Article PDF–5.1M

Select item 63656323.

Severe nasomaxillary hypoplasia (Binder phenotype) on prenatal US/MRI: an important marker for the prenatal diagnosis of chondrodysplasia punctata

Anna R. Blask, Eva I. Rubio, Kimberly A. Chapman, Anne K. Lawrence, Dorothy I. Bulas

Pediatr Radiol. Author manuscript; available in PMC 2019 Feb 7.

Published in final edited form as: Pediatr Radiol. 2018 Jul; 48(7): 979–991. Published online 2018 Mar 23. doi: 10.1007/s00247-018-4098-8

PMCID:: PMC6365632

Abstract Article PDF–2.0M

Select item 28444774.

Maternal Mixed Connective Tissue Disease and Offspring with Chondrodysplasia Punctata

Steffan W. Schulz, Michael Bober, Caitlyn Johnson, Nancy Braverman, Sergio A. Jimenez

Semin Arthritis Rheum. Author manuscript; available in PMC 2010 Oct 1.

Published in final edited form as: Semin Arthritis Rheum. 2010 Apr; 39(5): 410–416. Published online 2008 Dec 24. doi: 10.1016/j.semarthrit.2008.10.003

PMCID:: PMC2844477

Abstract Article PDF–98K

Select item 13769415.

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

A Daniele, G Parenti, M d'Addio, G Andria, A Ballabio, G Meroni

Am J Hum Genet. 1998 Mar; 62(3): 562–572. doi: 10.1086/301746

PMCID:: PMC1376941

Summary PDF–1.7M

Select item 10515126.

Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.

L J Sheffield, A H Osborn, W M Hutchison, D O Sillence, S M Forrest, S J White, H H Dahl

J Med Genet. 1998 Dec; 35(12): 1004–1008. doi: 10.1136/jmg.35.12.1004

PMCID:: PMC1051512

Summary Page Browse PDF–901K

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