Works matching DE "CAMPOMELIC dysplasia"
Results: 25
P31.03: Recurrence of campomelic dysplasia in two families.
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- Ultrasound in Obstetrics & Gynecology, 2012, v. 40, p. 298, doi. 10.1002/uog.12213
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- Article
Generation of mice with a novel conditional null allele of the Sox9 gene.
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- Biotechnology Letters, 2011, v. 33, n. 8, p. 1551, doi. 10.1007/s10529-011-0608-6
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- Article
SOX9 and the many facets of its regulation in the chondrocyte lineage.
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- Connective Tissue Research, 2017, v. 58, n. 1, p. 2, doi. 10.1080/03008207.2016.1183667
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- Article
Hip dysplasia associated with a hereditary sensorimotor polyneuropathy mimics a myopathic process.
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- 2012
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- Case Study
Newly Identified t(2;17)(p15;q24.2) Chromosomal Translocation Is Associated with Dysgenetic Gonads and Multiple Somatic Anomalies.
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- Tohoku Journal of Experimental Medicine, 2018, v. 245, n. 3, p. 187, doi. 10.1620/tjem.245.187
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- Article
p.His165Pro: A novel SOX9 missense mutation of campomelic dysplasia.
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- Journal of Obstetrics & Gynaecology Research, 2013, v. 39, n. 5, p. 1085, doi. 10.1111/jog.12032
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- Article
Bowdler spur also found in camptomelic dysplasia.
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- 2016
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- Publication type:
- commentary
Palatoplasty for the Patient With Campomelic Dysplasia—Report of a Case and Review of the Literature.
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- Cleft Palate Craniofacial Journal, 2022, v. 59, n. 1, p. 132, doi. 10.1177/1055665621992654
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- Article
Patient Reports: Two Novel Frameshift Mutations in the SOX9 Gene in Two Patients with Campomelic Dysplasia who showed Long-Term Survival.
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- 2010
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- Publication type:
- Case Study
A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.
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- 2016
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- Publication type:
- Case Study
A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 261, doi. 10.1002/mgg3.282
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- Article
Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
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- Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 550, doi. 10.1002/mgg3.165
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- Article
Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
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- Ultrasound in Obstetrics & Gynecology, 2010, v. 36, n. 3, p. 315, doi. 10.1002/uog.7761
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- Article
Clinical Utility Gene Card for: campomelic dysplasia.
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- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 1, doi. 10.1038/ejhg.2012.228
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- Article
Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report.
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- Indian Journal of Radiology & Imaging, 2018, v. 28, n. 4, p. 456, doi. 10.4103/ijri.IJRI_173_18
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- Article
McCune-Albright syndrome with craniofacial dysplasia: Clinical review and surgical management.
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- Surgical Neurology International, 2016, v. 7, p. 1, doi. 10.4103/2152-7806.178567
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- Article
A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene.
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- Türk Pediatri Arşivi, 2014, v. 49, n. 2, p. 154, doi. 10.5152/tpa.2014.1187
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- Article
Genetic Counseling Through Hope.
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- Journal of Genetic Counseling, 2012, v. 21, n. 2, p. 205, doi. 10.1007/s10897-011-9442-1
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- Article
Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.
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- PLoS Genetics, 2017, v. 13, n. 2, p. 1, doi. 10.1371/journal.pgen.1006610
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- Article
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.
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- Chromosome Research, 2013, v. 21, n. 8, p. 781, doi. 10.1007/s10577-013-9386-4
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- Article
Campomelic Dysplasia: Airway Management in Two Patients and an Update on Clinical-Molecular Correlations in the Head and Neck.
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- Annals of Otology, Rhinology & Laryngology, 2011, v. 120, n. 10, p. 682, doi. 10.1177/000348941112001009
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- Article
Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.
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- Annals of Otology, Rhinology & Laryngology, 2024, v. 133, n. 12, p. 1042, doi. 10.1177/00034894241290098
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- Article
Campomelic dysplasia with dextrocardia and without sexreversal.
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- Archive of Clinical Cases, 2017, v. 4, n. 1, p. 16, doi. 10.22551/2017.14.0401.10088
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- Article
Conservative Management of the Bilateral Congenital Dislocation of the Knee: A Case Report.
- Published in:
- 2017
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- Publication type:
- Case Study
Determinants of parental satisfaction with ultrasound hip screening in child health care.
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- Journal of Child Health Care, 2012, v. 16, n. 2, p. 178, doi. 10.1177/1367493511426280
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- Article