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- Publications
- Influence
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia
- Mesomelia, K. Girisha, +5 authors Hitesh Shah
- Biology, Medicine
- American journal of medical genetics. Part A
- 1 April 2014
Werner mesomelia is characterized by a sequence variation in the specific region (position 404) of the enhancer ZRS of SHH. The phenotype comprises variable mesomelia, abnormalities of the thumb and… Expand
Is coloboma a feature of fetal valproate syndrome?
- K. Shah, S. Shailaja, K. Girisha
- Medicine
- Clinical dysmorphology
- 2014
Clinical summary A 4-year-old boy was brought for evaluation of facial dysmorphism and developmental delay. He was delivered by Caesarean section at term in view of a previous Caesarean section and… Expand
Spectrum of urorectal septum malformation sequence
- K. Shah, S. Nayak, A. Shukla, K. Girisha
- Biology, Medicine
- Congenital anomalies
- 1 May 2016
Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of… Expand
Hypoparathyroidism in pregnancy
- K. Shah, Shashikala K. Bhat, S. Shetty, S. Umakanth
- Medicine
- BMJ Case Reports
- 15 July 2015
Hypoparathyroidism is an uncommon endocrine deficiency characterised by low serum calcium, absent or inappropriately low parathyroid hormone and normal or high serum phosphorus levels. Parathyroid… Expand
Prenatal diagnosis and postnatal management of congenital pulmonary airway malformation
- Shashikala K. Bhat, Rema Nambiar, Dinesh M. Nayak, K. Shah, K. Rao
- Medicine
- 2017
Congenital pulmonary airway malformation (CPAM) is a rare developmental lung abnormality. It is also referred as a congenital cystic adenomatoid malformation. The exact etiology is not known yet. The… Expand
Impact of High Levels of Pregnancy Associated Plasma Protein-A on Pregnancy
- K. Shah, R. Sultana, R. Bhat, Parvati V. Bhat, Shashikala K. Bhat
- Medicine
- 1 September 2018
Introduction: Routinely performed aneuploidy screen takes into account free beta human chorionic gonadotrophins (β- CG), Pregnancy Associated Plasma Protein-A (PAPP-A), nuchal translucency, and… Expand
Pregnancy associated plasma protein A: An indicator of adverse obstetric outcomes in a South India population
- K. Shah, Afsha Anjum, Parvathi Nair, Parvati V. Bhat, R. Bhat, Shashikala K. Bhat
- Medicine
- Turkish journal of obstetrics and gynecology
- 1 March 2020
Objective: First trimester aneuploidy screening (FTAS) has become an integral part of antenatal care in most of centers in India. The serum markers used for FTAS are pregnancy-associated plasma… Expand
A rare combination of amniotic constriction band with osteogenesis imperfecta
Amniotic constriction bands and osteogenesis imperfecta are disorders arising from a collagen defect. We report a rare association of amniotic bands with osteogenesis imperfecta in a child. The child… Expand
Tibial hypoplasia with a bifid tibia: an unclassified tibial hemimelia
Tibial hemimelia is a rare congenital limb deficiency which is characterised by a hypoplastic/aplastic tibia. It actually represents a spectrum of anomalies, ranging from mild hypoplasia of the tibia… Expand