Literature DB >> 20556869

The skeletal dysplasias.

Deborah Krakow1, David L Rimoin.   

Abstract

The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. The molecular mechanisms have been elucidated in many of these disorders providing for improved clinical diagnosis and reproductive choices for affected individuals and their families. An increasing variety of medical and surgical treatment options can be offered to affected individuals to try to improve their quality of life and lifespan.

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Year:  2010        PMID: 20556869     DOI: 10.1097/GIM.0b013e3181daae9b

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  56 in total

Review 1.  Advances in Skeletal Dysplasia Genetics.

Authors:  Krista A Geister; Sally A Camper
Journal:  Annu Rev Genomics Hum Genet       Date:  2015-04-22       Impact factor: 8.929

Review 2.  Skeletal dysplasias.

Authors:  Deborah Krakow
Journal:  Clin Perinatol       Date:  2015-04-08       Impact factor: 3.430

Review 3.  A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation.

Authors:  Sarah G Watson; Alistair D Calder; Amaka C Offiah; Samantha Negus
Journal:  Pediatr Radiol       Date:  2015-06-17

Review 4.  Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality.

Authors:  Kathryn S Milks; Lyndon M Hill; Keyanoosh Hosseinzadeh
Journal:  Pediatr Radiol       Date:  2016-12-01

5.  From the Cover: Embryonic Exposure to TCDD Impacts Osteogenesis of the Axial Skeleton in Japanese medaka, Oryzias latipes.

Authors:  AtLee T D Watson; Antonio Planchart; Carolyn J Mattingly; Christoph Winkler; David M Reif; Seth W Kullman
Journal:  Toxicol Sci       Date:  2016-11-15       Impact factor: 4.849

6.  Lessons from next-generation sequencing in genetic skeletal disorders.

Authors:  Maria L Brandi
Journal:  Bonekey Rep       Date:  2014-05-14

7.  Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1.

Authors:  Biagio Saitta; Jenna Passarini; Dhruv Sareen; Loren Ornelas; Anais Sahabian; Shilpa Argade; Deborah Krakow; Daniel H Cohn; Clive N Svendsen; David L Rimoin
Journal:  Stem Cells Dev       Date:  2014-04-01       Impact factor: 3.272

8.  Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.

Authors:  Yuri A Zarate; Katherine A Bosanko; Elizabeth Bhoj; Rebecca Ganetzky; Lois J Starr; Elaine H Zackai; G Bradley Schaefer
Journal:  Am J Med Genet A       Date:  2015-04-25       Impact factor: 2.802

9.  A novel loss-of-function mutation in Npr2 clarifies primary role in female reproduction and reveals a potential therapy for acromesomelic dysplasia, Maroteaux type.

Authors:  Krista A Geister; Michelle L Brinkmeier; Minnie Hsieh; Susan M Faust; I Jill Karolyi; Joseph E Perosky; Kenneth M Kozloff; Marco Conti; Sally A Camper
Journal:  Hum Mol Genet       Date:  2012-10-12       Impact factor: 6.150

10.  A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.

Authors:  A M Waryah; M Shahzad; H Shaikh; S A Sheikh; N A Channa; R B Hufnagel; A Makhdoom; S Riazuddin; Z M Ahmed
Journal:  Clin Genet       Date:  2015-12-21       Impact factor: 4.438

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