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Research Output 2007 2020

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Article
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

Ulna Fractures
Radius Fractures
Rubber
Wrist
Constriction

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

Femur
Knee
Tibia
Genu Varum
Genu Valgum
2019

Age- and gender-related reference ranges for thromboelastography from a healthy Indian population

Ahammad, J., Kurien, A., Shastry, S., Shah, H. H., Nayak, D., Kamath, A. & Badagabettu, S., 01-01-2019, (Accepted/In press) In : International Journal of Laboratory Hematology.

Research output: Contribution to journalArticle

Thrombelastography
Kaolin
Reference Values
Blood
Hemostatics

An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO

Narayanan, D. L., Shukla, A., Kausthubham, N., Bhavani, G. S., Shah, H., Mortier, G. & Girisha, K. M., 01-01-2019, In : American Journal of Medical Genetics, Part A. 179, 9, p. 1709-1717 9 p.

Research output: Contribution to journalArticle

Skeleton
Proteins
Brachydactyly
Endoribonucleases
Exome

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., 01-01-2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Epiphyses
Causality
Spine
Phenotype
Osteoarthritis with Mild Chondrodysplasia

Management of the knee problems in spastic cerebral palsy

Ganjwala, D. & Shah, H., 01-01-2019, In : Indian Journal of Orthopaedics. 53, 1, p. 53-62 10 p.

Research output: Contribution to journalArticle

Cerebral Palsy
Gait
Knee
Natural History
Decision Making
1 Citation (Scopus)

Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India

Uttarilli, A., Shah, H., Bhavani, G. S. L., Upadhyai, P., Shukla, A. & Girisha, K. M., 01-03-2019, In : Bone. 120, p. 204-211 8 p.

Research output: Contribution to journalArticle

India
Dysostoses
Osteogenesis Imperfecta
Inborn Genetic Diseases
Genetic Heterogeneity
2018
7 Citations (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

Osteogenesis Imperfecta
Genetic Association Studies
Mutation
Exome
Bony Callus
Sexual Development
Cerebral Palsy
Growth and Development
Tertiary Care Centers
Cross-Sectional Studies
Hemophilia A
Cross-Sectional Studies
Mothers
Parents
Hemophilia B
3 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

Tarsal Bones
Carpal Bones
Osteochondrodysplasias
Thoracic Vertebrae
Wrist
4 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

Pseudarthrosis
Ilizarov Technique
Tibia
Intramedullary Fracture Fixation
Bone Morphogenetic Proteins
2017
11 Citations (Scopus)

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

Genes
Mutation
Germ-Line Mutation
Bone Development
Pyle disease

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

Thigh
Knee Joint
Leg
11 Citations (Scopus)

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

Leucine
Phosphotransferases
Mutation
Genes
Acro-Osteolysis
7 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

Steel
Causality
Flatfoot
Hip Dislocation
Wrist
2016
9 Citations (Scopus)

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

Kinesin
Joint Dislocations
Joint Instability
Siblings
Tarsal Bones
14 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

Mutation
Osteolysis
Joint Diseases
Matrix Metalloproteinase 2
Osteolysis hereditary multicentric
Multiplex Polymerase Chain Reaction
Mothers
Duchenne Muscular Dystrophy
Muscular Dystrophies
Nonsense Codon
2 Citations (Scopus)

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

Humerus
Newborn Infant
Arm Injuries
Bone and Bones
Infectious Arthritis
7 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

Genotype
Phenotype
Mutation
Filamins
Immunoglobulins

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

Tibia
Hand-Foot Syndrome
Werner Syndrome
Polydactyly
Craniosynostoses

Unclassified tibial hemimelia

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

Research output: Contribution to journalArticle

Fibula
Tibia
Synostosis
Toes
Ankle
2015

A rare combination of amniotic constriction band with osteogenesis imperfecta

Shah, K. H. I. & Shah, H., 01-01-2015, In : BMJ Case Reports. 2015

Research output: Contribution to journalArticle

Amniotic Band Syndrome
Osteogenesis Imperfecta
Constriction
Tibia
Collagen Diseases
9 Citations (Scopus)

A retrospective study of clinical profile and drug prescribing pattern in osteoporosis in a tertiary care hospital

Tripathy, A., Adiga, S., Shah, H. H., Shanbhag, T. V. & Mahesh Kumar, D., 01-01-2015, In : International Journal of Pharmacy and Pharmaceutical Sciences. 7, 10, p. 390-393 4 p.

Research output: Contribution to journalArticle

Drug Prescriptions
Tertiary Healthcare
Tertiary Care Centers
Osteoporosis
Retrospective Studies
18 Citations (Scopus)

Clinical utility of fetal autopsy and its impact on genetic counseling

Nayak, S. S., Shukla, A., Lewis, L., Kadavigere, R., Mathew, M., Adiga, P. K., Vasudeva, A., Kumar, P., Shetty, J., Shah, H. & Girisha, K. M., 01-07-2015, In : Prenatal Diagnosis. 35, 7, p. 685-691 7 p.

Research output: Contribution to journalArticle

Genetic Counseling
Autopsy
Fetus
Counseling
Recurrence
22 Citations (Scopus)

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

Stephen, J., Girisha, K. M., Dalal, A., Shukla, A., Shah, H., Srivastava, P., Kornak, U. & Phadke, S. R., 01-01-2015, In : European Journal of Medical Genetics. 58, 1, p. 21-27 7 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Mutation
Genes
Exome
Missense Mutation
10 Citations (Scopus)

Recurrent and novel GLB1 mutations in India

Bidchol, A. M., Dalal, A., Trivedi, R., Shukla, A., Nampoothiri, S., Sankar, V. H., Danda, S., Gupta, N., Kabra, M., Hebbar, S. A., Bhat, R. Y., Matta, D., Ekbote, A. V., Puri, R. D., Phadke, S. R., Gowrishankar, K., Aggarwal, S., Ranganath, P., Sharda, S., Kamate, M. & 10 others, Datar, C. A., Bhat, K., Kamath, N., Shah, H., Krishna, S., Gopinath, P. M., Verma, I. C., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 10-08-2015, In : Gene. 567, 2, p. 173-181 9 p.

Research output: Contribution to journalArticle

India
Mutation
GM1 Gangliosidosis
Galactosidases
Nonsense Codon
2014
11 Citations (Scopus)

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

Girisha, K. M., Bidchol, A. M., Kamath, P. S., Shah, K. H., Mortier, G. R., Mundlos, S. & Shah, H., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 898-906 9 p.

Research output: Contribution to journalArticle

Extremities
Phenotype
Mutation
Hallux
Polydactyly
4 Citations (Scopus)

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

Girisha, K. M., Abdollahpour, H., Shah, H., Bhavani, G. S., Graham, J. M., Boggula, V. R., Phadke, S. R. & Kutsche, K., 2014, In : American Journal of Medical Genetics, Part A. 164, 4, p. 1035-1040 6 p.

Research output: Contribution to journalArticle

Pterygium
Scoliosis
Fingers
Finger Phalanges
Clubfoot
3 Citations (Scopus)

Exome sequencing identifies a dominant tnnt3 mutation in a large family with distal arthrogryposis

Daly, S. B., Shah, H., O'Sullivan, J., Anderson, B., Bhaskar, S., Williams, S., Al-Sheqaih, N., Mueed Bidchol, A., Banka, S., Newman, W. G. & Girisha, K. M., 2014, In : Molecular Syndromology. 5, 5, p. 218-228 11 p.

Research output: Contribution to journalArticle

Arthrogryposis
Exome
Brachydactyly
Syndactyly
Neuromuscular Diseases
18 Citations (Scopus)

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, A. M., Dalal, A., Shah, H., S, S., Nampoothiri, S., Kabra, M., Gupta, N., Danda, S., Gowrishankar, K., Phadke, S. R., Kapoor, S., Kamate, M., Verma, I. C., Puri, R. D., Sankar, V. H., Devi, A. R. R., Patil, S. J., Ranganath, P., Jain, S. J. M. N., Agarwal, M. & 7 others, Singh, A., Mishra, P., Tamhankar, P. M., Gopinath, P. M., Nagarajaram, H. A., Satyamoorthy, K. & Girisha, K. M., 01-11-2014, In : American Journal of Medical Genetics, Part A. 164, 11, p. 2793-2801 9 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Mucopolysaccharidosis IV
Mutation
Exons
N-acetylglucosamine-6-sulfatase
2 Citations (Scopus)

Intra-articular osteoid osteoma of the distal humerus: A diagnostic challenge

Challawar, N. S. & Shah, H. H., 06-03-2014, In : BMJ Case Reports.

Research output: Contribution to journalArticle

Osteoid Osteoma
Humerus
Joints
Synovitis
Elbow
14 Citations (Scopus)

Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

Stephen, J., Shukla, A., Dalal, A., Girisha, K. M., Shah, H., Gupta, N., Kabra, M., Dabadghao, P. & Phadke, S. R., 2014, In : American Journal of Medical Genetics, Part A. 164, 6, p. 1482-1489 8 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
Mutation
Genes
Consanguinity
Mutation Rate
6 Citations (Scopus)

The sphericity deviation score: A quantitative radiologic outcome measure of Legg-Calvé perthes disease applicable at the stage of healing and at skeletal maturity

Siddesh, N. D., Shah, H., Tercier, S., Pai, H., Nair, S. & Joseph, B., 01-01-2014, In : Journal of Pediatric Orthopaedics. 34, 5, p. 522-528 7 p.

Research output: Contribution to journalArticle

Legg-Calve-Perthes Disease
Hip
Outcome Assessment (Health Care)
Logistic Models
Thigh
2 Citations (Scopus)

Thorn-induced pseudotumour of the fibula

Challawar, N. S., Sud, V. & Shah, H., 16-05-2014, In : BMJ Case Reports.

Research output: Contribution to journalArticle

Fibula
Foreign Bodies
Foreign-Body Granuloma
Foot
Hand
2013
5 Citations (Scopus)
Legg-Calve-Perthes Disease
Osteotomy
Thigh
Knee
Genu Valgum
14 Citations (Scopus)

Quantitative measures for evaluating the radiographic outcome of Legg-Calvé-Perthes disease

Shah, H., Siddesh, N. D., Pai, H., Tercier, S. & Joseph, B., 20-02-2013, In : Journal of Bone and Joint Surgery - Series A. 95, 4, p. 354-361 8 p.

Research output: Contribution to journalArticle

Legg-Calve-Perthes Disease
Thigh
Outcome Assessment (Health Care)
Sample Size
Hip
2 Citations (Scopus)

The fate of the joint space in Legg-Calvé-Perthes' disease

Vijayan, S., Mehta, O., Jacob, G., Siddesh, N. D., Shah, H. & Joseph, B., 01-03-2013, In : Skeletal Radiology. 42, 3, p. 341-345 5 p.

Research output: Contribution to journalArticle

Legg-Calve-Perthes Disease
Joints
Hip
Thigh
Weight-Bearing
2012
13 Citations (Scopus)

A child with Erysipelothrix arthritis-beware of the little known

Mukhopadhyay, C., Shah, H., Vandana, K. E., Munim, F. & Vijayan, S., 01-01-2012, In : Asian Pacific Journal of Tropical Biomedicine. 2, 6, p. 503-504 2 p.

Research output: Contribution to journalArticle

Erysipelothrix
Arthritis
Infectious Arthritis
Animals
Joints
41 Citations (Scopus)

Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia

Dalal, A., Bhavani, S. L., Togarrati, P. P., Bierhals, T., Nandineni, M. R., Danda, S., Danda, D., Shah, H., Vijayan, S., Gowrishankar, K., Phadke, S. R., Bidchol, A. M., Rao, A. P., Nampoothiri, S., Kutsche, K. & Girisha, K. M., 11-2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2820-2828 9 p.

Research output: Contribution to journalArticle

Mutation
Genes
Hand Joints
Osteochondrodysplasias
Arthropathy, progressive pseudorheumatoid, of childhood
19 Citations (Scopus)

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

Klopocki, E., Kähler, C., Foulds, N., Shah, H., Joseph, B., Vogel, H., Lüttgen, S., Bald, R., Besoke, R., Held, K., Mundlos, S. & Kurth, I., 01-06-2012, In : European Journal of Human Genetics. 20, 6, p. 705-708 4 p.

Research output: Contribution to journalArticle

Polydactyly
Lower Extremity
Clubfoot
Bone and Bones
Mutation
51 Citations (Scopus)

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Klopocki, E., Lohan, S., Doelken, S. C., Stricker, S., Ockeloen, C. W., de Aguiar, R. S. T., Lezirovitz, K., Netto, R. C. M., Jamsheer, A., Shah, H., Kurth, I., Habenicht, R., Warman, M., Devriendt, K., Kordaß, U., Hempel, M., Rajab, A., Mäkitie, O., Naveed, M., Radhakrishna, U. & 3 others, Antonarakis, S. E., Horn, D. & Mundlos, S., 01-02-2012, In : Journal of Medical Genetics. 49, 2, p. 119-125 7 p.

Research output: Contribution to journalArticle

Ectromelia
Zebrafish
Tibia
Foot
Comparative Genomic Hybridization
16 Citations (Scopus)

Environmental tobacco and wood smoke increase the risk of legg-calvé-perthes disease hip

Daniel, A. B., Shah, H., Kamath, A., Guddettu, V. & Joseph, B., 09-2012, In : Clinical Orthopaedics and Related Research. 470, 9, p. 2369-2375 7 p.

Research output: Contribution to journalArticle

Legg-Calve-Perthes Disease
Smoke
Tobacco
Hip
Odds Ratio
1 Citation (Scopus)
2 Citations (Scopus)

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

Shah, H., Bens, S., Caliebe, A., Graham, J. M. & Girisha, K. M., 11-2012, In : American Journal of Medical Genetics, Part A. 158 A, 11, p. 2941-2945 5 p.

Research output: Contribution to journalArticle

Nose
Intellectual Disability
Cataract
Thorax
Phenotype

Handedness in diplegic cerebral palsy

Lin, K. R., Prabhu, V., Shah, H., Kamath, A. & Joseph, B., 10-2012, In : Developmental Neurorehabilitation. 15, 5, p. 386-389 4 p.

Research output: Contribution to journalArticle

Functional Laterality
Cerebral Palsy
Odds Ratio
Case-Control Studies
Hand
1 Citation (Scopus)
Infectious Arthritis
Tibia
Femur
Bone and Bones
Knee
4 Citations (Scopus)

Quadricepsplasty for congenital dislocation of the knee and congenital quadriceps contracture

Tercier, S., Shah, H. & Joseph, B., 19-09-2012, In : Journal of Children's Orthopaedics. 6, 5, p. 397-410 14 p.

Research output: Contribution to journalArticle

Knee Dislocation
Contracture
Knee
Articular Range of Motion
Wound Healing
1 Citation (Scopus)

The fate of the hip in spondylo-epi-metaphyseal dysplasia: Clinical and radiological evaluation of adults with SEMD Handigodu type

Siddesh, N. D., Shah, H. & Joseph, B., 01-08-2012, In : Skeletal Radiology. 41, 8, p. 939-945 7 p.

Research output: Contribution to journalArticle

Hip
Osteoarthritis
Pyle disease
Reconstructive Surgical Procedures
Acetabulum