AIIMS Rishikesh

Rishi Vansh

  1. Title of Serial/Periodical: Rishi Vansh

         Starting date: June 2020

         Frequency: Monthly

         Format: Electronic with following headings: Title of Article, Insight, Plausible Tents, Key Facts related to topics, Counselling Points, Thought Riveting

         Subject: Medical Genetics

         Language: English

         Format of publication: Online

  1. Publisher’s details
Owner Name/ Responsible Person Name : Prashant Kumar Verma
Name of Issuing/ Publishing body : Department of Pediatrics, Medical Genetic Division, AIIMS Rishikesh 
E-mail : 2004pkv@gmail.com
Mobile : 9412592332
Address line 1 : Department of Pediatrics, Medical Genetic Division, AIIMS Rishikesh
Town City : Rishikesh
Pin Code : 249203
State : Uttarakhand
  1. Editorial Board:
    • Meenu Singh, (Chief Patron)

Executive Director, All India Institute of Medical Sciences · Virbhadra Road, Rishikesh · Uttarakhand- 249 203, India

Email: director@aiimsrishikesh.edu.in

Profile  link: https://aiimsrishikesh.edu.in/a1_1/?page_id=898

  • Jaya Chaturvedi ( Patron)

Dean academic, AIIMS Rishikesh All India Institute of Medical Sciences · Virbhadra Road, Rishikesh · Uttarakhand- 249 203, India

Email: https://aiimsrishikesh.edu.in/a1_1/?page_id=1890

Profile Link: jaya.obg@aiimsrishikesh.edu.in

  • N. K. Bhat ( President)

Head of Pediatric department, AIIMS Rishikesh, All India Institute of Medical Sciences · Virbhadra Road, Rishikesh · Uttarakhand- 249 203, India

Email: nkbhat.ped@aiimsrishikesh.edu.in

Profile Link: https://aiimsrishikesh.edu.in/a1_1/?page_id=1111

  • Manisha Naithani (Associate Editor)

Associate Dean(UG), Faculty in Department of biochemistry, AIIMS Rishikesh, All India Institute of Medical Sciences · Virbhadra Road, Rishikesh · Uttarakhand- 249 203, India

Email: manisha.bchem@aiimsrishikesh.edu.in

Profile Link: https://aiimsrishikesh.edu.in/a1_1/?page_id=1059

  • Pooja Bhadoria (Assistant Editors)

Professor ( Associate), Faculty in Department of Anatomy, AIIMS Rishikesh All India Institute of Medical Sciences · Virbhadra Road, Rishikesh · Uttarakhand- 249 203, India

Email: pooja.ana@aiimsrishikesh.edu.in

Profile Link: https://aiimsrishikesh.edu.in/a1_1/?page_id=1057

  1. Archives page on website:
  1. Rishi Vansh, Volume 1, Issue 1, June 2020-DOI: 13140/RG.2.2.18973.23526  Rb genetic facts
  2. Rishi Vansh, Volume 1, Issue 2, July 2020- DOI: 13140/RG.2.2.28200.70403  CYP21A2 (CAH1) Genetic Facts
  3. Rishi Vansh, Volume 1, Issue 3, August 2020- DOI: Hb(hemoglobin) Genetic Facts – II HBB Gene
  4. Rishi Vansh, Volume 1, Issue 4, September 2020-DOI: Genes Hb(hemoglobin) Genetic Facts – II HBA (1&2) Genes
  5. Rishi Vansh, Volume 1, Issue 5, October 2020-DOI: Hb(hemoglobin) Genetic Facts – III HBG (1&2)
  6. Rishi Vansh, Volume 1, Issue 6, November 2020-DOI:  Genetic Facts related to RBCs- I, Hereditary Spherocytosis (HS)
  7. Rishi Vansh, Volume 1, Issue 7, December 2020-DOI:  Hereditary disorders of RBCs -II: Diamond–Blackfan Anemia (DBA)
  8. Rishi Vansh, Volume 2, Issue 1, January 2021- DOI:  Neurogenetics -I: Duchenne muscular dystrophy (DMD)
  9. Rishi Vansh, Volume 2, Issue 2, February 2021- DOI:  Hereditary disorders of RBCs -III: Pernicious Anemia (PA)
  10. Rishi Vansh, Volume 2, Issue 3, March 2021- DOI: 13140/RG.2.2.13602.96964   Neurogenetics -II: SMN1 related Spinal muscular atrophy (SMA)
  11. Rishi Vansh, Volume 2, Issue 4, April 2021- DOI: 13140/RG.2.2.33471.02727  Hereditary disorders of RBCs -IV: Congenital Dyserythropoietic Anaemia (CDA)
  12. Rishi Vansh, Volume 2, Issue 5, May 2021-13140/RG.2.2.30726.29764 Neurogenetics -III: NON-SMN related Spinal muscular atrophy (SMA)
  13. Rishi Vansh, Volume 2, Issue 6, June 2021- DOI: 13140/RG.2.2.10584.62721 Hereditary disorders of RBCs -V: Hereditary Sideroblastic Anemias (HSIDBA)
  14. Rishi Vansh, Volume 2, Issue 7, July 2021-DOI: 13140/RG.2.2.27793.35686 Neurogenetics -IV: Intellectual Disability/ X-Linked/ FMR1 disorders/Fragile X syndrome (FXS)
  15. Rishi Vansh, Volume 2, Issue 8, August 2021- DOI: 13140/RG.2.2.28361.88163  Hereditary disorders of RBCs -VI: Hereditary Methemoglobinemia (MetHb)
  16. Rishi Vansh, Volume 2, Issue 9, September 2021- DOI:13140/RG.2.2.35273.47203 Neurogenetics -IV: Intellectual Disability/ X-Linked/ARX related disorders
  17. Rishi Vansh, Volume 2, Issue 10, October 2021- DOI: 13140/RG.2.2.16934.45121    Hereditary disorders of RBCs – V: Non-membranopathic Hemolytic Anemia (NMHA)/ nonspherocytic hemolytic anemia (NSHA)
  18. Rishi Vansh, Volume 2, Issue 11, November 2021- DOI: 13140/RG.2.2.11516.26248  Neurogenetics -IV: Intellectual Disability/ X-Linked/ MRXS16/Aarskog-Scott Syndrome (ASS)
  19. Rishi Vansh, Volume 2, Issue 12, December 2021- DOI:13140/RG.2.2.11292.62085 Hereditary disorders of RBCs -VII: G6PD (Glucose-6-phosphate dehydrogenase) deficiency
  20. Rishi Vansh, Volume 3, Issue 1, January 2022- DOI 13140/RG.2.2.34680.78082 Inherited Metabolic Diseases   Neurometabolic/Intellectual Disability/ X-Linked/ Adrenoleukodystrophy (ALD)
  21. Rishi Vansh, Volume 3, Issue 2, February 2022- DOI 13140/RG.2.2.22958.18245  Neurogenetics – V Intellectual Disability/ X-Linked/ Borjeson-Forssman-Lehmann Syndrome; MRXBFLS
  22. Rishi Vansh, Volume 3, Issue 3, March 2022DOI: 13140/RG.2.2.34680.78082 Inherited Metabolic Diseases Neurometabolic/Intellectual Disability/ X-Linked/ Ornithine Transcarbamylase (OTC) Deficiency
  23. Rishi Vansh, Volume 3, Issue 4, April 2022 DOI: 13140/RG.2.2.25369.08805 Neurogenetics – VI Intellectual Disability/ X-Linked/(IDXL)/ MED12-Related Disorders
  24. Rishi Vansh, Volume 3, Issue 5, May 2022 DOI: 13140/RG.2.2.24826.77767 Inherited Metabolic Diseases, Neurometabolic/Intellectual Disability/ X-Linked/ Methylmalonic Aciduria and Homocystinuria, cblX TYPE; MAHCX / X linked Disorders of Intracellular Cobalamin Metabolism
  25. Rishi Vansh, Volume 3, Issue 6, June 2022 DOI: 13140/RG.2.2.22193.45929 Neurogenetics -VII Intellectual Disability/ X-Linked/(IDXL)/ Deafness-Dystonia-Optic Neuronopathy Syndrome (DDON), Mohr-Tranebjaerg syndrome (MTS)
  26. Rishi Vansh, Volume 3, Issue 7, July 2022 DOI: 13140/RG.2.2.23908.86406  Inherited Metabolic Diseases Neurometabolic/Intellectual Disability/ X-Linked/ Allan-Herndon-Dudley Syndrome (AHDS)/T3 resistance
  27. Rishi Vansh, Volume 3, Issue 8, August 2022 DOI: 13140/RG.2.2.10604.23686 Neurogenetics -VIII Intellectual Disability/ X-Linked/(IDXL)/ Simpson-Golabi-Behmel syndrome (SGBS)
  28. Rishi Vansh, Volume 3, Issue 9, September 2022 DOI: 13140/RG.2.2.18103.19364 Pulmogenetics-I Cystic fibrosis (CF)/ Mucoviscidosis – Part (I)
  29. Rishi Vansh, Volume 3, Issue 10, October 2022 DOI: 10.13140/RG.2.2.19738.93123 Neurogenetics -IX Intellectual Disability/ X-Linked/(IDXL)/ Renpenning syndrome
  30. Rishi Vansh, Volume 3, Issue 11, November 2022 DOI: 13140/RG.2.2.19183.51369 Pulmogenetics-II Cystic fibrosis (CF)/ Mucoviscidosis – Part (II)
  31. Rishi Vansh, Volume 3, Issue 12, December 2022 DOI:13140/RG.2.2.20083.81446.  Neurometabolic /Intellectual Disability/ X-Linked/ Danon disease (Pseudoglycogenosis II)
  32. Rishi Vansh, Volume 4, Issue 1, Jan 2023 DOI: 13140/RG.2.2.28329.88169 Neurogenetics – X Intellectual Disability/ X-Linked/(IDXL)/ Microphthalmia, Syndromic 1; MCOPS1
  33. Rishi Vansh, Volume 4, Issue 2, Feb 2023 DOI:: 13140/RG.2.2.23399.52643 Pulmogenetics-III Tuberculosis / Human Genetics/ sensibility and response- General
  34. Rishi Vansh, Volume 4, Issue 3, March 2023 DOI: 13140/RG.2.2.31711.12965 Neurometabolic /Intellectual Disability / X-Linked HSD10 mitochondrial disease
  35. Rishi Vansh, Volume 4, Issue 4, April 2023 DOI: 13140/RG.2.2.31579.23844 Neurogenetics -XI Intellectual Disability/ X-Linked/(IDXL)/ Intellectual developmental disorder, X-linked 99 /USP9X
  36. Rishi Vansh, Volume 4, Issue 5, May 2023 DOI: 13140/RG.2.2.15183.76960 Pulmogenetics-IV, Asthma/ Human Genetics/ “Asthma-related traits” (ASRT)
  37. Rishi Vansh, Volume 4, Issue 6, June 2023 DOI: 10.13140/RG.2.2.20371.25123 Neurometabolic /Intellectual Disability/ X-Linked/ AIFM1 related disorder including Cowchock syndrome (CMTX4) / (COWCK)
  38. Rishi Vansh, Volume 4, Issue 7, July 2023 DOI: 13140/RG.2.2.33829.88807 Neurogenetics-(XII)/Intellectual Disability/ X-Linked/(IDXL)/ Intellectual developmental disorder, Opitz GBBB syndrome; (X-OS) GBBB
  39. Rishi Vansh, Volume 4, Issue 8, August 2023 DOI:13140/RG.2.2.14311.62882 Pulmogenetics-V Human Genetics/ Genetics with “Bronchiectasis” – Part-I
  40. Rishi Vansh, Volume 4, Issue 9, Sept 2023 DOI : 13140/RG.2.2.28463.71843 Neurometabolic/ Intellectual Disability/ X-Linked/ PORCN-Related Developmental Disorders/ Focal dermal hypoplasia; FDH / GOLTZ-GORLIN SYNDROME-(Part -I)
  41. Rishi Vansh, Volume 4, Issue 10, October 2023 DOI:10.13140/RG.2.2.16499.30248 Neurogenetics -XIII/ /Intellectual Disability/ X-Linked/(IDXL)/ Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome-2 (MCAHS2); PIGA related disorders
  42. Rishi Vansh, Volume 4, Issue 11, November 2023 DOI: DOI: 10.13140/RG.2.2.12054.93769  Pulmogenetics-VI Human Genetics/ Genetics– Surfactant dysfunction & Lung disorders  
  43. Rishi Vansh, Volume 4, Issue 12, Dec 2023 DOI: 10.13140/RG.2.2.33155.07200 Neurogenetics -XIV- Neurometabolic/Intellectual Disability/ X-Linked/ PORCN-Related Developmental Disorders/ Focal dermal hypoplasia; FDH / GOLTZ-GORLIN SYNDROME- (Part -II)
  44. Rishi Vansh, Volume 5, Issue 1, Jan 2024 DOI: 10.13140/RG.2.2.25945.70248, Progeroid syndromes (PS)-I, / LAMIN A/C/ Hutchinson-Gilford progeria (HGP) or PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  45. Rishi Vansh, Volume 5, Issue 2, Feb 2024 DOI: 13140/RG.2.2.21743.20647 Pulmogenetics-VII Hereditary Immuno-deficiency & Bronchiectasis as one of the characteristic phenotype/ STAT1-
  46. Rishi Vansh, Volume 5, Issue 3, Mar 2024 DOI: 13140/RG.2.2.22894.18246 Neurogenetics -XV- Neurometabolic/Intellectual Disability/ X-Linked/ / PLP1 related Disorders, included Pelizaeus-Merzbacher disease (PMD) & spastic paraplegia 2 (SPG2)
  47. Rishi Vansh, Volume 5, Issue 4, April 2024 DOI: 10.13140/RG.2.2.21051.02087 Progeroid syndromes (PS)- Progeroid Syndromes Like (PSL)-II / LAMIN A/C related disorders/ Emery-Dreifuss Muscular Dystrophy (EDMD) Type 2 & 3
  48. Rishi Vansh, Volume 5, Issue 5, May 2024 DOI: 10.13140/RG.2.2.26165.28646 Pulmogenetics-VIII / Hereditary Ciliopathies & Bronchiectasis / Primary CILiary Dyskinesia (PCD or CILD) /DNAI1 & OTHERS
  49. Rishi Vansh, Volume 5, Issue 6, June 2024 DOI: 10.13140/RG.2.2.13188.74888 Neurogenetics -XVI – Intellectual Disability/X-Linked/ Developmental and Epileptic Encephalopathy 9 (Juberg-Hellman Syndrome) (Epileptic Encephalopathy, Early Infantile, 9)
  50. Rishi Vansh, Volume 5, Issue 7, July 2024 DOI: 10.13140/RG.2.2.29603.05920 Progeroid Syndromes Like (PSL)-III / LAMIN A/C related disorders/ Mandibuloacral dysplasia type A lipodystrohy (MADA)
  51. Rishi Vansh, Volume 5, Issue 8, Aug 2024 DOI: DOI: 10.13140/RG.2.2.16691.44320, /*Pulmogenetics-IX/ Syndromes associated with Bronchiectasis / Cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD)

52. Rishi Vansh, Volume 5, Issue 9, Sept 2024 DOI: 10.13140/RG.2.2.34406.643240 Neurogenetics -XVII –
Dysmorphic /Intellectual Disability/ X-Linked / de Lange syndrome ( dLS) 2 & 5 (SMC1A & HDAC8)

53. Rishi Vansh, Volume 5, Issue 10, Oct 2024 DOI: 10.13140/RG.2.2.10209.11363OI: 10 Progeroid syndromes
(PS)-IV Progeroid Syndromes Like (PSL)-III / LAMIN A/C related disorders/ Malouf syndrome (Cardiogenital
Syndrome)

54. Rishi Vansh, Volume 5, Issue 11, Nov 2024 DOI: 10.13140/RG.2.2.31337.51049 Pulmogenetics-X/ Syndromes associated with Bronchiectasis / Yellow nail syndrome (YNS), AD

55. Rishi Vansh, Volume 5, Issue 12, Dec 2024 DOI: 10.13140/RG.2.2.13709.14560   Neurogenetics -XVIII- Dysmorphic/ Intellectual Disability/ X-Linked/ RPS6KA3 related disorders

56. Rishi Vansh, Volume 6, Issue 1, Jan 2025 DOI: 10.13140/RG.2.2.12285.68329 Progeroid Syndromes Like (PSL)-V / LAMIN A/C related disorders / Charcot-Marie-Tooth type 2B1 (CMT2B1)

57. Rishi Vansh, Volume 6, Issue 2, Feb 2025 DOI: 10.13140/RG.2.2.17057.52324  Pulmogenetics-XI/ Syndromes associated with Bronchiectasis / Syndromes overlap with CF / Young’ Syndrome

58. Rishi Vansh, Volume 6, Issue 3, Mar 2025 DOI: 10.13140/RG.2.2.29800.58888  Neurogenetics -XIX -Dysmorphic / Intellectual deficiency /X-Linked / Phosphatidylinositol 4,5-bisphosphate-5-   Phosphatase (OCRL)spectrum disorder; Including Lowe & Dent disease2

59. Rishi Vansh, Volume 6, Issue 4, Apr 2025 DOI: 10 10.13140/RG.2.2.28018.82881  Progadieroid syndromes (PS)-VI/ LAMIN A/C related disorders /Heart-hand syndrome, Slovenian type

60. Rishi Vansh, Volume 6, Issue 5, May 2025 DOI: 10.13140/RG.2.2.12374.36163  Pulmogenetics-XII – Syndromes associated with Bronchiectasis / Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness- RPGR related disorders

61. Rishi Vansh, Volume 6, Issue 6, Jun 2025 DOI: 10  Neurogenetics -XX – Neurometabolic /Intellectual deficiency / Phosphoribosylpyrophosphate synthetase 1 (PRPS 1) related disorders

62. Rishi Vansh, Volume 6, Issue 7, Jul 2025 DOI: 10  Progeroid syndromes (PS)-VII/ LAMIN A/C related disorders / Restrictive dermopathy 2

63. Rishi Vansh, Volume 6, Issue 8 , Aug 2025 : Pulmogenetics-XII – Syndromes associated with Bronchiectasis/ Ectodermal  dysplasia and immunodeficiency type (IKBKG Related Disorders)

64.Rishi Vansh, Volume 6, Issue 9 Sept 2025: Neurogenetics -XXI / Intellectual deficiency / X- Linked /Intellectual developmental disorder

65 Rishi Vansh, Volume 6, Issue 10 Oct 2025 :  Progeroid Syndromes (PS)-VII / Werner Syndrome (RECQL2)

66 Rishi Vansh, Volume 6, Issue 11 Nov 2025:Pulmogenetics-XIII/ Syndromes associated with Bronchiectasis / Hyper-IgE syndrome with recurrent infections (HIES) including STAT3-HIES

67.Rishi Vansh, Volume 6, Issue 12 Dec 2025: Neurogenetics -XXI / Intellectual deficiency / X-Linked / Intellectual developmental disorder, X-linked syndromic, Nascimento type

 

 

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