Publications by authors named "Shubha Phadke"

100Publications

Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program.

Am J Med Genet A 2020 Oct 14. Epub 2020 Oct 14.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.61918DOI Listing
October 2020

Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.

Indian J Pediatr 2020 Sep 16. Epub 2020 Sep 16.

Department of Clinical Immunology & Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1007/s12098-020-03502-wDOI Listing
September 2020

Untapped opportunities for rare disease gene discovery in India.

Am J Med Genet A 2020 Sep 10. Epub 2020 Sep 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.61866DOI Listing
September 2020

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism - Correspondence.

Indian J Pediatr 2020 Aug 7. Epub 2020 Aug 7.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s12098-020-03467-wDOI Listing
August 2020

Peters-Plus with Anal Atresia and a Novel Frameshift Mutation.

Indian J Pediatr 2020 Jul 11. Epub 2020 Jul 11.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s12098-020-03416-7DOI Listing
July 2020

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Indian J Pediatr 2020 Jun 15. Epub 2020 Jun 15.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-020-03333-9DOI Listing
June 2020

Hypotonic infant with Pallister-Killian syndrome diagnosed by cytogenetic microarray, without pigmentary skin changes and malformations.

J Genet 2020 ;99

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226 014, India.

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January 2020

Distal Arthrogryposis: A Clue to the Etiology of Neonatal Cholestasis.

Indian J Pediatr 2020 Oct 1;87(10):869-870. Epub 2020 Apr 1.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-020-03248-5DOI Listing
October 2020

Computer-aided Facial Analysis in Diagnosing Dysmorphic Syndromes in Indian Children.

Indian Pediatr 2019 12;56(12):1017-1019

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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December 2019

Adrenoleukodystrophy: The Importance of Early MRI Findings and Serial Imaging.

Neurol India 2019 Nov-Dec;67(6):1559-1561

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.4103/0028-3886.273651DOI Listing
August 2020

Renpenning syndrome in an Indian patient.

Am J Med Genet A 2020 02 16;182(2):293-295. Epub 2019 Dec 16.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.61457DOI Listing
February 2020

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

J Hum Genet 2019 Dec 17;64(12):1173-1186. Epub 2019 Sep 17.

Department of Human Genetics, Graduate school of medicine, Yokohama City University, Yokohama, Japan.

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http://dx.doi.org/10.1038/s10038-019-0667-4DOI Listing
December 2019

A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability.

Eur J Med Genet 2020 Mar 9;63(3):103756. Epub 2019 Sep 9.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, Uttar Pradesh, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103756DOI Listing
March 2020

Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype.

Ann Rheum Dis 2019 Aug 24. Epub 2019 Aug 24.

Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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http://dx.doi.org/10.1136/annrheumdis-2019-216158DOI Listing
August 2019

Vici Syndrome with a Novel Mutation in EPG5.

Indian Pediatr 2019 07;56(7):603-605

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, Uttar Pradesh, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.

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July 2019

Clinico-hematological Profile of Hb E-β Thalassemia-Prospective Analysis in a tertiary Care Centre.

J Assoc Physicians India 2018 Jun;66(6):42-45

Professor, Department of Medical Genetics, SGPGIMS, Lucknow, UttarPradesh.

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June 2018

Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utility.

J Genet 2019 03;98

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226 014 , India.

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March 2019

Malan syndrome: Extension of genotype and phenotype spectrum.

Am J Med Genet A 2018 12 10;176(12):2896-2900. Epub 2018 Dec 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40663
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http://dx.doi.org/10.1002/ajmg.a.40663DOI Listing
December 2018

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes.

Eur J Med Genet 2019 Dec 10;62(12):103597. Epub 2018 Dec 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183025
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http://dx.doi.org/10.1016/j.ejmg.2018.12.002DOI Listing
December 2019

Expanding the phenotype in autosomal dominant mental retardation-24: a novel variation in DEAF1 gene.

Clin Dysmorphol 2019 Apr;28(2):94-97

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://Insights.ovid.com/crossref?an=00019605-900000000-9954
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http://dx.doi.org/10.1097/MCD.0000000000000252DOI Listing
April 2019

Gene expression profiling of coronary artery disease and its relation with different severities.

J Genet 2018 Sep;97(4):853-867

Department of Cardiology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226 014, India.

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September 2018

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.

Clin Dysmorphol 2018 Oct;27(4):130-134

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh.

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http://dx.doi.org/10.1097/MCD.0000000000000236DOI Listing
October 2018

Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.

BMC Gastroenterol 2018 Jul 4;18(1):107. Epub 2018 Jul 4.

Department of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India.

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http://dx.doi.org/10.1186/s12876-018-0835-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6032793PMC
July 2018

Study of the association of forkhead box P3 () gene polymorphisms with unexplained recurrent spontaneous abortions in Indian population.

J Genet 2018 Jun;97(2):405-410

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, India.

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June 2018

A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype-phenotype correlation.

Clin Dysmorphol 2018 Oct;27(4):142-144

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/MCD.0000000000000228DOI Listing
October 2018

Sequence variations in TENM3 gene causing eye anomalies with intellectual disability: Expanding the phenotypic spectrum.

Eur J Med Genet 2019 Jan 9;62(1):61-64. Epub 2018 May 9.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173074
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http://dx.doi.org/10.1016/j.ejmg.2018.05.004DOI Listing
January 2019

Phenotypic characterization of derivative 22 syndrome: case series and review.

J Genet 2018 Mar;97(1):205-211

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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March 2018

Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.

Indian J Med Res 2017 Dec;146(6):689-699

Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_1788_15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5926339PMC
December 2017

Concepts, Utility and Limitations of Cord Blood Banking: What Clinicians Need to Know.

Indian J Pediatr 2019 Jan 20;86(1):44-48. Epub 2018 Mar 20.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1007/s12098-018-2651-yDOI Listing
January 2019

Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

Indian J Pediatr 2018 Dec 15;85(12):1061-1066. Epub 2018 Mar 15.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-018-2654-8DOI Listing
December 2018

Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.

Indian Pediatr 2018 06 9;55(6):474-477. Epub 2018 Feb 9.

Department of Medical Genetics, SGPGI, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Shubha Phadke, Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.

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June 2018

Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction?

Transfus Apher Sci 2018 Feb 6;57(1):50-53. Epub 2017 Dec 6.

Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014 India. Electronic address:

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http://dx.doi.org/10.1016/j.transci.2017.11.030DOI Listing
February 2018

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.

Am J Med Genet A 2018 01 21;176(1):34-40. Epub 2017 Nov 21.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

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http://dx.doi.org/10.1002/ajmg.a.38537DOI Listing
January 2018

Double Segment Chromosomal Imbalance due to Inherited Chromosomal Translocation: Detection by Cytogenetic Microarray.

Indian Pediatr 2017 Oct;54(10):879-881

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. Correspondence to: Dr Shubha R Phadke, Department of Medical Genetics, SGPGIMS, Lucknow, India.

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http://dx.doi.org/10.1007/s13312-017-1154-7DOI Listing
October 2017

Socio-demographic Profile and Economic Burden of Treatment of Transfusion Dependent Thalassemia.

Indian J Pediatr 2018 02 9;85(2):102-107. Epub 2017 Nov 9.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s12098-017-2478-yDOI Listing
February 2018

Next Generation Sequencing in Diagnosis of MLPA Negative Cases Presenting as Duchenne/ Becker Muscular Dystrophies.

Indian J Pediatr 2018 04 12;85(4):309-310. Epub 2017 Sep 12.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India.

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http://link.springer.com/10.1007/s12098-017-2455-5
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http://dx.doi.org/10.1007/s12098-017-2455-5DOI Listing
April 2018

Hyperekplexia: A forgotten diagnosis clinched by next-generation sequencing.

Neurol India 2017 Sep-Oct;65(5):1065-1067

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://www.neurologyindia.com/text.asp?2017/65/5/1065/214091
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http://dx.doi.org/10.4103/neuroindia.NI_851_16DOI Listing
July 2019

Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation.

Indian J Med Res 2017 Apr;145(4):471-478

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.4103/ijmr.IJMR_1882_14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5663160PMC
April 2017

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

Indian J Pediatr 2017 12 23;84(12):959-960. Epub 2017 Aug 23.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-017-2430-1DOI Listing
December 2017

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

Indian Pediatr 2017 Aug 4;54(8):638-643. Epub 2017 Jun 4.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh; *GRIPMER and Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi; #Clinical Genetics, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, India. Correspondence to: Dr Kausik Mandal, Associate Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-017-1125-zDOI Listing
August 2017

A novel variant in MED12 gene: Further delineation of phenotype.

Am J Med Genet A 2017 Aug 23;173(8):2257-2260. Epub 2017 May 23.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.38295DOI Listing
August 2017

Fetal intra abdominal umbilical vein varix: Case series and review of literature.

Indian J Radiol Imaging 2017 Jan-Mar;27(1):59-61

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://www.ijri.org/text.asp?2017/27/1/59/202964
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http://dx.doi.org/10.4103/0971-3026.202964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385777PMC
May 2017

Expansion of the phenotypic spectrum in three families of methyl CpG-binding protein 2 duplication syndrome.

Clin Dysmorphol 2017 Apr;26(2):73-77

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1097/MCD.0000000000000171DOI Listing
April 2017

Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations.

Am J Med Genet A 2017 Mar 27;173(3):588-595. Epub 2017 Jan 27.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.38064DOI Listing
March 2017

KBG syndrome: 16q24.3 microdeletion in an Indian patient.

Clin Dysmorphol 2017 Jul;26(3):161-166

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1097/MCD.0000000000000168DOI Listing
July 2017

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.

Am J Med Genet A 2017 Jan 18;173(1):163-168. Epub 2016 Oct 18.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.37996DOI Listing
January 2017

Unusual skin manifestations in a patient with menkes disease.

Am J Med Genet A 2016 11;170(11):3039-3040

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/ajmg.a.37696DOI Listing
November 2016

Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2.

Indian J Pediatr 2017 Mar 14;84(3):236-237. Epub 2016 Oct 14.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-016-2236-6DOI Listing
March 2017

Vascular endothelial growth factor gene polymorphisms and association with age related macular degeneration in Indian patients.

Meta Gene 2016 Sep 22;9:249-53. Epub 2016 Jul 22.

Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow -226014, India.

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http://dx.doi.org/10.1016/j.mgene.2016.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006127PMC
September 2016

Metatropic Dysplasia with a Novel Mutation in TRPV4.

Indian Pediatr 2016 Aug;53(8):735-7

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; and #Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal; India. Correspondence to: Dr Shubha Phadke, Professor and Head, Department of Medical genetics, Sanjay Gandhi Post graduate Institute, Lucknow 226 010, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-016-0921-1DOI Listing
August 2016

Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages.

Fertil Steril 2016 Oct 25;106(5):1115-1123.e6. Epub 2016 Jun 25.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2016.06.011DOI Listing
October 2016

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Am J Med Genet A 2016 08 5;170(8):1967-73. Epub 2016 Jun 5.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870868PMC
August 2016

Novel sequence variations in the thymidine phosphorylase gene causing mitochondrial neurogastrointestinal encephalopathy.

Clin Dysmorphol 2016 Oct;25(4):156-62

Departments of aGastroenterology bMedical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences cNational Bureau of Fish Genetics and Resources, Lucknow, India.

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http://dx.doi.org/10.1097/MCD.0000000000000137DOI Listing
October 2016

Floating Harbor Syndrome.

Indian J Pediatr 2016 Aug 21;83(8):896-7. Epub 2016 May 21.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-016-2153-8DOI Listing
August 2016

Pycnodysostosis: mutation spectrum in five unrelated Indian children.

Clin Dysmorphol 2016 Jul;25(3):113-20

aDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh bDepartment of Endocrinology and Metabolism, Institute of Post Graduate Medical Education and Research and Seth Sukhlal Karnani Memorial Hospital, Kolkata cDepartment of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad dDepartment of Pediatrics, Genetics Division, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1097/MCD.0000000000000128DOI Listing
July 2016

Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders.

Am J Med Genet A 2016 06 4;170(6):1622-5. Epub 2016 Apr 4.

Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

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http://dx.doi.org/10.1002/ajmg.a.37643DOI Listing
June 2016

Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta.

Indian Pediatr 2016 Mar;53(3):250-2

Departments of Medical Genetics and *Orthopaedics, Nizams Institute of Medical Sciences, Hyderabad, Telangana; and Department of Medical Genetics, SGPGIMS, Lucknow, Uttar Pradesh; India. Correspondence to: Dr Prajnya Ranganath, Department of Medical Genetics, Nizams Institute of Medical Sciences, Punjagutta, Hyderabad, Telangana 500 082, India.

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http://dx.doi.org/10.1007/s13312-016-0830-3DOI Listing
March 2016

Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.

Indian Pediatr 2016 Feb;53(2):134-6

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Kausik Mandal, Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-016-0807-2DOI Listing
February 2016

Complex chromosomal rearrangement involving five chromosomes: deciphering genomic imbalances in an apparently balanced chromosomal translocation.

Clin Dysmorphol 2016 Apr;25(2):63-7

aDepartment of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh bCentre for Molecular and Metabolic Diagnostics & Research, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, India.

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http://dx.doi.org/10.1097/MCD.0000000000000118DOI Listing
April 2016

Cartilage Hair Hypoplasia: Two Unrelated Cases with g.70 A > G Mutation in RMRP Gene.

Indian J Pediatr 2016 Sep 1;83(9):1003-5. Epub 2016 Feb 1.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1947-4DOI Listing
September 2016

Infantile Systemic Hyalinosis with Mutation in ANTXR2.

Indian J Pediatr 2016 Nov 25;83(11):1356-1357. Epub 2016 Jan 25.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1990-1DOI Listing
November 2016

Lysosomal Storage Disorders: Present and Future.

Authors:
Shubha R Phadke

Indian Pediatr 2015 Dec;52(12):1025-6

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1007/s13312-015-0766-zDOI Listing
December 2015

Smith-Magenis Syndrome: Face Speaks.

Indian J Pediatr 2016 Jun 17;83(6):589-93. Epub 2015 Dec 17.

Department of Medical Genetics, Sanjay Gandhi Post-Graduate Institute of Medical Sciences, Raibereli Road, Lucknow, Uttar Pradesh, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1940-yDOI Listing
June 2016

Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy.

Am J Med Genet A 2016 Feb 24;170A(2):410-417. Epub 2015 Nov 24.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37447DOI Listing
February 2016

Knowledge of Cord Blood Banking in General Population and Doctors: A Questionnaire Based Survey.

Indian J Pediatr 2016 Mar 21;83(3):238-41. Epub 2015 Nov 21.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, 226014, India.

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http://dx.doi.org/10.1007/s12098-015-1909-xDOI Listing
March 2016

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

Authors:
Shubha R Phadke

Am J Med Genet A 2015 Nov 3;167A(11):2868. Epub 2015 Aug 3.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.37272DOI Listing
November 2015

Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.

Indian J Med Res 2015 Aug;142(2):220-4

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226 014, Uttar Pradesh, India.

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http://dx.doi.org/10.4103/0971-5916.164262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613445PMC
August 2015

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Cytogenet Genome Res 2015 10;146(3):187-94. Epub 2015 Sep 10.

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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https://www.karger.com/Article/FullText/439205
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http://dx.doi.org/10.1159/000439205DOI Listing
January 2016

Consanguinity as an Adjunct Diagnostic Tool.

Indian J Pediatr 2016 Mar 4;83(3):258-60. Epub 2015 Jul 4.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.

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http://link.springer.com/content/pdf/10.1007%2Fs12098-015-17
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http://link.springer.com/10.1007/s12098-015-1764-9
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http://dx.doi.org/10.1007/s12098-015-1764-9DOI Listing
March 2016

Medical genetics and genomic medicine in India: current status and opportunities ahead.

Mol Genet Genomic Med 2015 May;3(3):160-71

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow, India.

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http://dx.doi.org/10.1002/mgg3.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4444157PMC
May 2015

Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes.

Am J Med Genet A 2015 Aug 21;167A(8):1927-31. Epub 2015 Apr 21.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.

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http://dx.doi.org/10.1002/ajmg.a.37116DOI Listing
August 2015

Performance of QF-PCR in targeted prenatal aneuploidy diagnosis: Indian scenario.

Gene 2015 May 25;562(1):55-61. Epub 2015 Feb 25.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1016/j.gene.2015.02.028DOI Listing
May 2015

White matter changes in GM1 gangliosidosis.

Indian Pediatr 2015 Feb;52(2):155-6

Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh; and *Kasturba Medical College, Manipal University, Manipal, India. Correspondence to: Dr Shubha R Phadke, Professor and Head, Department of Medical Genetics, SGPGIMS, Lucknow 226 014.

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http://dx.doi.org/10.1007/s13312-015-0593-2DOI Listing
February 2015

Application of a reliable and rapid polymerase chain reaction based method in the diagnosis of myotonic dystrophy type 1 (DM1) in India.

Meta Gene 2014 Dec 15;2:106-13. Epub 2014 Jan 15.

Department of Neurology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow 226014, India.

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https://linkinghub.elsevier.com/retrieve/pii/S22145400130003
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http://dx.doi.org/10.1016/j.mgene.2013.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287798PMC
December 2014

Chondrodysplasia punctata tibia metacarpal type: report of a 1.5 year old child with severe short stature and extensive calcific stippling.

Clin Dysmorphol 2015 Jul;24(3):118-21

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1097/MCD.0000000000000076DOI Listing
July 2015

A Mutagenic Primer Assay for Genotyping of the CRHR1 Gene Rare Variant rs1876828 (A/G) in Asians: A Cost-Effective SNP Typing.

J Clin Lab Anal 2016 Mar 26;30(2):169-74. Epub 2014 Dec 26.

Department of Medical Genetics, SGPGIMS, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1002/jcla.21832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6807002PMC
March 2016

Implication of HLA-G 5' upstream regulatory region polymorphisms in idiopathic recurrent spontaneous abortions.

Reprod Biomed Online 2015 Jan 16;30(1):82-91. Epub 2014 Oct 16.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh 226014, India. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2014.09.015DOI Listing
January 2015

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

Eur J Med Genet 2015 Jan 24;58(1):21-7. Epub 2014 Oct 24.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.10.001DOI Listing
January 2015

S.S. Agarwal.

Authors:
Shubha Phadke

Natl Med J India 2014 Jan-Feb;27(1):44-5

Department of Medical Genetics Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow Uttar Pradesh

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January 2015