Girisha KM - Search Results

1

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

Holling T, Bhavani GS, von Elsner L, Shah H, Kausthubham N, Bhattacharyya SS, Shukla A, Mortier GR, Schinke T, Danyukova T, Pohl S, Kutsche K, Girisha KM. Holling T, et al. Among authors: girisha km. Hum Mutat. 2022 May;43(5):625-642. doi: 10.1002/humu.24368. Epub 2022 Mar 21. Hum Mutat. 2022. PMID: 35266227

2

Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome.

Shah H, Singh G, Vijayan S, Girisha KM. Shah H, et al. Among authors: girisha km. Clin Dysmorphol. 2011 Jan;20(1):55-57. doi: 10.1097/MCD.0b013e32833f000b. Clin Dysmorphol. 2011. PMID: 20808218 No abstract available.

3

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

Girisha KM, Lewis LE, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2010 Nov;152A(11):2861-4. doi: 10.1002/ajmg.a.33687. Am J Med Genet A. 2010. PMID: 20979192

4

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails: Fuhrmann syndrome without WNT7A mutations.

Girisha KM, Vasudevan TG, Saadi AV, Shah H, Gopinath PM, Satyamoorthy K. Girisha KM, et al. Clin Dysmorphol. 2011 Oct;20(4):205-209. doi: 10.1097/MCD.0b013e328348d956. Clin Dysmorphol. 2011. PMID: 21716096 No abstract available.

5

Further characterization of acro-renal-uterine-mandibular syndrome: report of a case and review of earlier reports.

Girisha KM, Pratap D, Shah HH. Girisha KM, et al. Clin Dysmorphol. 2012 Apr;21(2):83-86. doi: 10.1097/MCD.0b013e328350ae74. Clin Dysmorphol. 2012. PMID: 22391619 Review. No abstract available.

6

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: a novel phenotype.

Shah H, Bens S, Caliebe A, Graham JM Jr, Girisha KM. Shah H, et al. Among authors: girisha km. Am J Med Genet A. 2012 Nov;158A(11):2941-5. doi: 10.1002/ajmg.a.35618. Epub 2012 Sep 17. Am J Med Genet A. 2012. PMID: 22987502 Free PMC article.

7

Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.

Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Among authors: girisha km. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.

8

Loss of a condyle of the femur or tibia following septic arthritis in infancy: problems of management and testing of a hypothesis of pathogenesis.

Tercier S, Siddesh ND, Shah H, Girisha KM, Joseph B. Tercier S, et al. Among authors: girisha km. J Child Orthop. 2012 Aug;6(4):319-25. doi: 10.1007/s11832-012-0408-0. Epub 2012 Jul 19. J Child Orthop. 2012. PMID: 23904899 Free PMC article.

9

A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis.

Girisha KM, Abdollahpour H, Shah H, Bhavani GS, Graham JM Jr, Boggula VR, Phadke SR, Kutsche K. Girisha KM, et al. Am J Med Genet A. 2014 Apr;164A(4):1035-40. doi: 10.1002/ajmg.a.36381. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458843

10

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.

Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H. Girisha KM, et al. Am J Med Genet A. 2014 Apr;164A(4):898-906. doi: 10.1002/ajmg.a.36367. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478176

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

287 results

Search Page

Filters