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  • 2020
  • 2018
  • 2017
  • 2016

Author

  • Hitesh Hasmukhlal Shah
2020

A rare case of rubber band syndrome of wrist with distal radius and ulna fracture

Narayana Kurup, J. K. & Shah, H. H., 01-07-2020, In : Journal of Orthopaedics. 20, p. 60-62 3 p.

Research output: Contribution to journalArticle

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Girisha, K. M., Bhavani, G. S., Shah, H., Moirangthem, A., Shukla, A., Kim, O. H., Nishimura, G. & Mortier, G. R., 01-02-2020, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Does the timing of treatment affect complications of pediatric femoral neck fractures?

Singh, K. A., Chandankere, V. & Shah, H., 01-11-2020, In : Journal of Orthopaedics. 22, p. 207-212 6 p.

Research output: Contribution to journalArticle

Evolution of legg-calvé-perthes disease following proximal femoral varus osteotomy performed in the avascular necrosis stage:A prospective study

Singh, K. A., Shah, H., Joseph, B., Aarvold, A. & Kim, H. K. W., 02-2020, In : Journal of Children's Orthopaedics. 14, 1, p. 58-67 10 p.

Research output: Contribution to journalArticle

Open Access

Hemiepiphysiodesis using 2-holed reconstruction plate for correction of angular deformity of the knee in children

Narayana kurup, J. K. & Shah, H. H., 01-07-2020, In : Journal of Orthopaedics. 20, p. 54-59 6 p.

Research output: Contribution to journalArticle

Orthopedic manifestation as the presenting symptom of acute lymphoblastic leukemia

Raj B K, A., Singh, K. A. & Shah, H., 01-11-2020, In : Journal of Orthopaedics. 22, p. 326-330 5 p.

Research output: Contribution to journalArticle

Open Access
2018

A review of skeletal dysplasia research in India

Uttarilli, A., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2018, In : Journal of Postgraduate Medicine. 64, 2, p. 98-103 6 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, J., Bhavani, G. S. L., Shah, H., Hecht, J., Krüger, U., Shukla, A., Kornak, U. & Girisha, K. M., 01-05-2018, In : Bone. 110, p. 368-377 10 p.

Research output: Contribution to journalArticle

10 Citations (Scopus)

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB

Salian, S., Shukla, A., Shah, H., Bhat, S. N., Bhat, V. R., Nampoothiri, S., Shenoy, R., Phadke, S. R., Hariharan, S. V. & Girisha, K. M., 01-07-2018, In : Clinical Genetics. 94, 1, p. 159-164 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

What Factors Influence Union and Refracture of Congenital Pseudarthrosis of the Tibia? A Multicenter Long-term Study

Shah, H., Joseph, B., Nair, B. V. S., Kotian, D. B., Choi, I. H., Richards, B. S., Johnston, C., Madhuri, V., Dobbs, M. B. & Dahl, M., 01-01-2018, In : Journal of Pediatric Orthopaedics. 38, 6, p. e332-e337

Research output: Contribution to journalArticle

5 Citations (Scopus)
2017

A novel sequence variant in SFRP4 causing Pyle disease

Galada, C., Shah, H., Shukla, A. & Girisha, K. M., 01-04-2017, In : Journal of Human Genetics. 62, 5, p. 575-576 2 p.

Research output: Contribution to journalArticle

12 Citations (Scopus)

A rare case of congenital tibiofemoral fusion with bilateral proximal femoral focal deficiency: A case report

Imthiaz, V. K., Shah, K. & Shah, H., 12-04-2017, In : JBJS Case Connector. 7, 2, e22.

Research output: Contribution to journalArticle

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Guo, L., Girisha, K. M., Iida, A., Hebbar, M., Shukla, A., Shah, H., Nishimura, G., Matsumoto, N., Nismath, S., Miyake, N. & Ikegawa, S., 01-03-2017, In : Journal of Human Genetics. 62, 3, p. 437-441 5 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1

Kotabagi, S., Shah, H., Shukla, A. & Girisha, K. M., 01-09-2017, In : Clinical Genetics. 92, 3, p. 323-326 4 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)
2016

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Girisha, K. M., Kortüm, F., Shah, H., Alawi, M., Dalal, A., Bhavani, G. S. L. & Kutsche, K., 01-08-2016, In : European Journal of Human Genetics. 24, 8, p. 1206-1210 5 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy

Bhavani, G. S., Shah, H., Shukla, A., Gupta, N., Gowrishankar, K., Rao, A. P., Kabra, M., Agarwal, M., Ranganath, P., Ekbote, A. V., Phadke, S. R., Kamath, A., Dalal, A. & Girisha, K. M., 01-02-2016, In : American Journal of Medical Genetics, Part A. 170, 2, p. 410-417 8 p.

Research output: Contribution to journalArticle

14 Citations (Scopus)

Congenital posteromedial bowing of the tibia

Joseph, B., Shah, H. & Siddesh, N. D., 01-01-2016, Pediatric Lower Limb Deformities: Principles and Techniques of Management. Springer International Publishing AG, p. 495-502 8 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Late presented case of distal humerus epiphyseal separation in a newborn

Mane, P. P., Challawar, N. S. & Shah, H., 01-01-2016, In : BMJ Case Reports. 2016, A40.

Research output: Contribution to journalArticle

2 Citations (Scopus)

Phenotype and genotype in patients with Larsen syndrome: Clinical homogeneity and allelic heterogeneity in seven patients

Girisha, K. M., Bidchol, A. M., Graul-Neumann, L., Gupta, A., Hehr, U., Lessel, D., Nader, S., Shah, H., Wickert, J. & Kutsche, K., 06-04-2016, In : BMC Medical Genetics. 17, 1, 27.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia

Shah, K. & Shah, H., 16-08-2016, In : BMJ Case Reports. 2016

Research output: Contribution to journalArticle

Unclassified tibial hemimelia

Senthil, V., Kottamttavide, I. V. & Shah, H., 01-01-2016, In : BMJ Case Reports. 2016, bcr2016215305.

Research output: Contribution to journalArticle