New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene.

PubWeight™: 0.76‹?›

🔗 View Article (PMID 21077204)

Published in Am J Med Genet A on December 01, 2010


Malwina Czarny-Ratajczak1, Tadeusz Bieganski, Piotr Rogala, Maciej Glowacki, Tomasz Trzeciak, Kazimierz Kozlowski

Author Affiliations

1: Center for Gene Therapy, Tulane University Health Sciences Center, New Orleans, Louisiana, USA.

Articles by these authors

Pachydermoperiostosis-critical analysis with report of five unusual cases. Eur J Pediatr (2007) 1.01

Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients. Am J Med Genet A (2004) 0.98

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol (2004) 0.95

The role of adipocytokines in the pathogenesis of knee joint osteoarthritis. Int Orthop (2015) 0.91

A novel form of ischio-vertebral syndrome. Skeletal Radiol (2006) 0.90

Quebec Back Pain Disability Scale, Low Back Outcome Score and revised Oswestry low back pain disability scale for patients with low back pain due to degenerative disc disease: evaluation of Polish versions. Spine (Phila Pa 1976) (2011) 0.90

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. J Appl Genet (2012) 0.89

IAEA survey of pediatric CT practice in 40 countries in Asia, Europe, Latin America, and Africa: Part 1, frequency and appropriateness. AJR Am J Roentgenol (2012) 0.88

Female patients' and parents' assessment of deformity- and brace-related stress in the conservative treatment of adolescent idiopathic scoliosis. Spine (Phila Pa 1976) (2012) 0.86

Personality characteristics of females with adolescent idiopathic scoliosis after brace or surgical treatment compared to healthy controls. Med Sci Monit (2010) 0.85

Perception of stress level, trunk appearance, body function and mental health in females with adolescent idiopathic scoliosis treated conservatively: a longitudinal analysis. Qual Life Res (2012) 0.84

Brace and deformity-related stress level in females with adolescent idiopathic scoliosis based on the Bad Sobernheim Stress Questionnaires. Med Sci Monit (2011) 0.84

Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. Hum Genet (2011) 0.84

Cross-cultural adaptation of the Neck Disability Index and Copenhagen Neck Functional Disability Scale for patients with neck pain due to degenerative and discopathic disorders. Psychometric properties of the Polish versions. BMC Musculoskelet Disord (2011) 0.84

Prototype of minimally invasive hip resurfacing endoprosthesis - bioengineering design and manufacturing. Acta Bioeng Biomech (2009) 0.84

The role of growth factors in stem cell-directed chondrogenesis: a real hope for damaged cartilage regeneration. Int Orthop (2014) 0.83

A new form or a variant of SMD type A4. J Appl Genet (2012) 0.82

Three new patients with FATCO: fibular agenesis with ectrodactyly. Am J Med Genet A (2012) 0.81

A variant or a "new" postaxial acrofacial dysostosis syndrome. Eur J Pediatr (2008) 0.81

Severe neonatal spondylometaphyseal dysplasia in two siblings. Am J Med Genet A (2009) 0.80

Preliminary results of implantation in animal model and osteoblast culture evaluation of prototypes of biomimetic multispiked connecting scaffold for noncemented stemless resurfacing hip arthroplasty endoprostheses. Biomed Res Int (2013) 0.79

Capital femoral epiphysis and growth plate of the asymptomatic hip joint in unilateral Perthes disease. J Pediatr Orthop B (2003) 0.79

Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. J Appl Genet (2014) 0.78

Meniscus suture provides better clinical and biomechanical results at 1-year follow-up than meniscectomy. Arch Orthop Trauma Surg (2013) 0.78

A longitudinal study of alexithymia in relation to physical activity in adolescent females with scoliosis subjected to cheneau brace treatment: preliminary report. Spine (Phila Pa 1976) (2014) 0.78

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3. BMC Med Genet (2013) 0.77

[The value of autologous osteochondral paste for in-vitro treatment of damage to articular cartilage. Part I. Macroscopic and microscopic assessment of the regenerated articular surface]. Chir Narzadow Ruchu Ortop Pol (2003) 0.77

[Value of autologous transplantation of osteo-chondral paste in reconstruction of experimental cartilage defects. Part II. Microscopic analysis of integration with surrounding cartilage, structural integrity and subchondral bone reconstruction in repair tissue]. Chir Narzadow Ruchu Ortop Pol (2003) 0.77

[Value of osteo-chondral paste autologous transplantation in experimental cartilage defects reconstruction. Part IV--Microscopic analysis of cellularity and of traits of necrosis in the defect-filling tissue]. Chir Narzadow Ruchu Ortop Pol (2004) 0.76

[Value of osteo-chondral paste autologous transplantation in experimental cartilage defects reconstruction. Part III--Microscopic analysis of reconstructed cartilage thickness and surface regularity]. Chir Narzadow Ruchu Ortop Pol (2004) 0.76

Osteoarthritis and telomere shortening. J Appl Genet (2014) 0.75

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. J Pediatr Orthop B (2008) 0.75

Algorithm of physical therapy exercises following total hip arthroplasty. Pol Orthop Traumatol (2013) 0.75

Mass-media and the transplantation crisis: the example of Poland. Med Sci Monit (2010) 0.75

Tributes. S Afr Med J (2016) 0.75

[Application of microscopic MR for evaluation of cartilage repair]. Chir Narzadow Ruchu Ortop Pol (2007) 0.75

[Minimally invasive technique in surgical treatment of carpal tunnel syndrome and cubital tunnel syndrome]. Chir Narzadow Ruchu Ortop Pol (2007) 0.75

Ultrasound diagnosis of severe mesomelic dysplasia in two fetuses, associated with increased neck translucency and tetralogy of Fallot in one and cystic hygroma in the other. Am J Med Genet A (2010) 0.75

[The influence of patient age and duration time of symptoms on the long-term outcome of surgical treatment]. Chir Narzadow Ruchu Ortop Pol (2002) 0.75

Juvenile nephronophtisis, short stature, partial adontia and skeletal abnormalities--a new syndromic association. Nephrol Dial Transplant (2006) 0.75

Expansion of Carraro syndrome or a new disorder? Eur J Pediatr (2009) 0.75

[Clinical versus radiological mid-term results of total knee arthroplasty for degenerative arthritis of the knee]. Chir Narzadow Ruchu Ortop Pol (2011) 0.75

[Value of collagen scaffolds in surgical reconstruction of articular cartilage]. Chir Narzadow Ruchu Ortop Pol (2005) 0.75

Severe, atypical form of dyschondrosteosis (report of two cases). Eur J Pediatr (2005) 0.75

A boy with severe craniodiaphyseal dysplasia and apparently normal mother. Am J Med Genet A (2007) 0.75

[Graft remodeling following Hertel ACL reconstruction in MR imaging]. Chir Narzadow Ruchu Ortop Pol (2003) 0.75

Two familial cases with a lethal gracile bone dysplasia and intrauterine growth retardation. Am J Med Genet A (2003) 0.75