Works matching AU Phadke, Shubha R.

Results: 128

Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.

Published in:

Indian Journal of Pediatrics, 2025, v. 92, n. 6, p. 585, doi. 10.1007/s12098-023-04986-y

By:

Manisha, Rani;
Phadke, Shubha R.

Publication type:

Article

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

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 160, doi. 10.1002/mgg3.150

By:

Aggarwal, Shagun;
Phadke, Shubha R

Publication type:

Article

Intracardiac echogenic focus and fetal outcome.

Published in:

2010

By:

Gupta, Geetika;
Aggarwal, Shagun;
Phadke, Shubha R.

Publication type:

journal article

Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: an experience of a clinical genetics center.

Published in:

2010

By:

Phadke, Shubha R.;
Gupta, Ashutosh

Publication type:

journal article

Twin pregnancy with Roberts syndrome in one fetus and trisomy 18 in the other.

Published in:

2006

By:

Dalal, Ashwin B.;
Phadke, Shubha R.

Publication type:

journal article

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

Published in:

Human Mutation, 2021, v. 42, n. 10, p. 1336, doi. 10.1002/humu.24263

By:

Deshpande, Dipti;
Gupta, Shailesh Kumar;
Sarma, Asodu Sandeep;
Ranganath, Prajnya;
Jain S., Jamal Md Nurul;
Sheth, Jayesh;
Mistri, Mehul;
Gupta, Neerja;
Kabra, Madhulika;
Phadke, Shubha R.;
Girisha, Katta M.;
Dua Puri, Ratna;
Aggarwal, Shagun;
Datar, Chaitanya;
Mandal, Kausik;
Tilak, Preetha;
Muranjan, Mamta;
Bijarnia‐Mahay, Sunita;
Rama Devi A., Radha;
Tayade, Naresh B.

Publication type:

Article

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians.

Published in:

Human Mutation, 2021, v. 42, n. 4, p. e15, doi. 10.1002/humu.24172

By:

Kausthubham, Neethukrishna;
Shukla, Anju;
Gupta, Neerja;
Bhavani, Gandham S.;
Kulshrestha, Samarth;
Das Bhowmik, Aneek;
Moirangthem, Amita;
Bijarnia‐Mahay, Sunita;
Kabra, Madhulika;
Puri, Ratna D.;
Mandal, Kausik;
Verma, Ishwar C.;
Bielas, Stephanie L.;
Phadke, Shubha R.;
Dalal, Ashwin;
Girisha, Katta M.

Publication type:

Article

Understanding and issues related to next‐generation sequencing among educated laypersons in India.

Published in:

Journal of Genetic Counseling, 2025, v. 34, n. 2, p. 1, doi. 10.1002/jgc4.2008

By:

Shambhavi, Arya;
Moirangthem, Amita;
Mishra, Prabhaker;
Phadke, Shubha R.

Publication type:

Article

Clinical and Mutation Spectra of Cockayne Syndrome in India.

Published in:

2021

By:

Narayanan, Dhanya;
Tuteja, Moni;
McIntyre, Adam;
Hegele, Robert;
Calmels, Nadege;
Obringer, Cathy;
Laugel, Vincent;
Mandal, Kausik;
Phadke, Shubha;
Narayanan, Dhanya L;
McIntyre, Adam D;
Hegele, Robert A;
Phadke, Shubha R

Publication type:

journal article

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

Published in:

2017

By:

Lallar, Meenakshi;
Srivastava, Anukool;
Phadke, Shubha R.

Publication type:

Case Study

Clinical profile and molecular diagnosis in patients of facioscapulohumeral dystrophy from Indian subcontinent.

Published in:

Neurology India, 2010, v. 58, n. 3, p. 436, doi. 10.4103/0028-3886.66456

By:

Tamhankar, Parag M.;
Phadke, Shubha R.

Publication type:

Article

A new autosomal recessive disorder of bilateral frontotemporal pachygyria without microcephaly: report of a case and review of literature.

Published in:

2007

By:

Phadke, Shubha R.;
Girisha, K. M.;
Phadke, Rajendra V.

Publication type:

journal article

Second trimester screening for fetal aneuploidy through triple marker test: the two-year experience of the Genetics unit of a referral institute.

Published in:

Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 6, p. 149

By:

Ranganath, Prajnya;
Agarwal, Meenal;
Phadke, Shubha R.

Publication type:

Article

Umbilical Cord Cyst on Antenatal Ultrasonogram: A marker for Trisomy 18.

Published in:

Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 4/5, p. 135

By:

Girisha, K. M.;
Goel, Himanshu;
Phadke, Shubha R.

Publication type:

Article

Chromosomal anomalies in couples with recurrent spontaneous abortions: Prevalence and counseling.

Published in:

Perinatology: Journal of Perinatal & Neonatal Care, 2008, v. 10, n. 3, p. 77

By:

Gupta, Ashutosh;
Phadke, Shubha R.

Publication type:

Article

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

Published in:

Indian Journal of Radiology & Imaging, 2017, v. 27, n. 1, p. 59, doi. 10.4103/0971-3026.202964

By:

Lallar, Meenakshi;
Phadke, Shubha R.

Publication type:

Article

Complex Hereditary Spastic Paraparesis Caused by de novo p.Arg480Ser in FAR1.

Published in:

Indian Journal of Pediatrics, 2024, v. 91, n. 8, p. 839, doi. 10.1007/s12098-023-04652-3

By:

Shambhavi, Arya;
Moirangthem, Amita;
Pandey, Manmohan;
R Phadke, Shubha

Publication type:

Article

Congenital Hyperinsulinemia of Infancy: Role of Molecular Testing in Management and Genetic Counseling.

Published in:

2022

By:

Sait, Haseena;
Sharma, Lokesh;
Dabadghao, Preeti;
Phadke, Shubha R.

Publication type:

Editorial

Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

Published in:

Indian Journal of Pediatrics, 2021, v. 88, n. 8, p. 813, doi. 10.1007/s12098-021-03763-z

By:

Nilay, Mayank;
Srivastava, Priyanka;
Rai, Archana;
Phadke, Shubha R.

Publication type:

Article

Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.

Published in:

2021

By:

Sait, Haseena;
Gangadharan, Harikrishnan;
Gupta, Aviral;
Aggarwal, Amita;
Jain, Manoj;
Phadke, Shubha R.

Publication type:

Editorial

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism – Correspondence.

Published in:

2021

By:

Finsterer, Josef;
Nilay, Mayank;
Phadke, Shubha R.

Publication type:

Letter

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

Published in:

2021

By:

Agrawal, Neha;
Phadke, Shubha R.

Publication type:

Letter

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Published in:

Indian Journal of Pediatrics, 2020, v. 87, n. 12, p. 1070, doi. 10.1007/s12098-020-03333-9

By:

Nilay, Mayank;
Phadke, Shubha R.

Publication type:

Article

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

Published in:

2020

By:

Rai, Archana;
Mandal, Kausik;
Saxena, Deepti;
Lallar, Meenakshi;
Phadke, Shubha R

Publication type:

Letter

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

Published in:

Indian Journal of Medical Research, 2017, v. 145, n. 4, p. 471, doi. 10.4103/ijmr.IJMR_1882_14

By:

Siddesh, Anjurani;
Gupta, Geetika;
Sharan, Ram;
Agarwal, Meenal;
Phadke, Shubha R.

Publication type:

Article

Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability.

Published in:

Indian Journal of Medical Research, 2015, v. 142, n. 6, p. 699, doi. 10.4103/0971-5916.174561

By:

Boggula, Vijay Raju;
Agarwal, Meenal;
Kumar, Rashmi;
Awasthi, Shally;
Phadke, Shubha R.

Publication type:

Article

Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.

Published in:

Indian Journal of Medical Research, 2015, v. 142, n. 4, p. 414, doi. 10.4103/0971-5916.169201

By:

Uttarilli, Anusha;
Ranganath, Prajnya;
Nurul Jain, S. Jamal Md;
C., Krishna Prasad;
Sinha, Anupam;
Verma, Ishwar C.;
Phadke, Shubha R.;
Puri, Ratna D.;
Danda, Sumita;
Muranjan, Mamta N.;
Jevalikar, Ganesh;
Nagarajaram, H. A.;
Dalal, Ashwin B.

Publication type:

Article

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

Published in:

Indian Journal of Medical Research, 2015, v. 142, n. 2, p. 220, doi. 10.4103/0971-5916.164262

By:

Dalal, Ashwin;
Bhowmik, Aneek Das;
Agarwal, Divya;
Phadke, Shubha R.

Publication type:

Article

Novel mutations in PRG4 gene in two Indian families with camptodactyly-arthropathy- coxa vara- pericarditis (CACP) syndrome.

Published in:

Indian Journal of Medical Research, 2014, v. 140, n. 2, p. 221

By:

Nandagopalan, Rajashree S.;
Phadke, Shubha R.;
Dalal, Ashwin B.;
Ranganath, Prajnya

Publication type:

Article

Clinical utility of multiplex ligation-dependent probe amplification technique in identification of aetiology of unexplained mental retardation: A study in 203 Indian patients.

Published in:

Indian Journal of Medical Research, 2014, v. 139, n. 1, p. 66

By:

Boggula, Vijay R.;
Shukla, Anju;
Danda, Sumita;
Hariharan, Sankar V.;
Nampoothiri, Sheela;
Kumar, Rashmi;
Phadke, Shubha R.

Publication type:

Article

Cytochrome P450 (CYP2C92,3) & vitamin-K epoxide reductasecomplex (VKORC1 -1639G<A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical heart valve replacement.

Published in:

Indian Journal of Medical Research, 2013, v. 137, n. 1, p. 203

By:

Kaur, Anupriya;
Khan, Farah;
Agrawal, Suraksha S.;
Kapoor, Aditya;
Agarwal, Surendra K.;
Phadke, Shubha R.

Publication type:

Article

Aetiologic spectrum of mental retardation & developmental delay in India.

Published in:

Indian Journal of Medical Research, 2012, v. 136, n. 3, p. 436

By:

Aggarwal, Shagun;
Bogula, Vijay Raju;
Mandal, Kausik;
Kumar, Rashmi;
Phadke, Shubha R.

Publication type:

Article

Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis.

Published in:

Indian Journal of Medical Research, 2010, v. 131, n. 4, p. 508

By:

Phadke, Shubha R.;
Fischer, Bjoern;
Gupta, Neerja;
Ranganath, Prajnya;
Kabra, Madhulika;
Kornak, Uwe

Publication type:

Article

Challenges in identifying genetic risk factors for common multifactorial disorders.

Published in:

2008

By:

Phadke, Shubha R.

Publication type:

Editorial

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

Published in:

2016

By:

Sharma, Neeraj;
Awasthi, Shally;
Phadke, Shubha R

Publication type:

journal article

Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India.

Published in:

Hematology, 2012, v. 17, n. 5, p. 291, doi. 10.1179/1607845412Y.0000000017

By:

Singh, Kritanjali;
Kumar, Ravindra;
Shukla, Anju;
Phadke, Shubha R.;
Agarwal, Sarita

Publication type:

Article

Long-term efficacy of oral deferiprone in management of iron overload in beta thalassemia major.

Published in:

Hematology, 2008, v. 13, n. 2, p. 77, doi. 10.1179/102453308X315924

By:

Goel, Himanshu;
Girisha, K. M.;
Phadke, Shubha R.

Publication type:

Article

Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes.

Published in:

Pediatric Dermatology, 2006, v. 23, n. 3, p. 225, doi. 10.1111/j.1525-1470.2006.00222.x

By:

Gupta, Neerja;
Phadke, Shubha R.

Publication type:

Article

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4‐related leukoencephalopathy.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 864, doi. 10.1002/ajmg.a.63084

By:

Sait, Haseena;
Shambhavi, Arya;
Pandey, Manmohan;
Ravichandran, Deepak;
Phadke, Shubha R.

Publication type:

Article

Perspectives on the future of dysmorphology.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 659, doi. 10.1002/ajmg.a.63060

By:

Solomon, Benjamin D.;
Adam, Margaret P.;
Fong, Chin‐To;
Girisha, Katta M.;
Hall, Judith G.;
Hurst, Anna C. E.;
Krawitz, Peter M.;
Moosa, Shahida;
Phadke, Shubha R.;
Tekendo‐Ngongang, Cedrik;
Wenger, Tara L.

Publication type:

Article

Autosomal recessive spinocerebellar ataxia‐20 due to a novel SNX14 variant in an Indian girl.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1909, doi. 10.1002/ajmg.a.62701

By:

Sait, Haseena;
Moirangthem, Amita;
Agrawal, Vinita;
Phadke, Shubha R.

Publication type:

Article

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 751, doi. 10.1002/ajmg.a.62566

By:

Jacob, Prince;
Bhavani, Gandham Sri Lakshmi;
Shah, Hitesh;
Galada, Chelna;
Nampoothiri, Sheela;
Kamath, Nutan;
Phadke, Shubha R.;
Muranjan, Mamta;
Datar, Chaitanya A.;
Shukla, Anju;
Girisha, Katta M.

Publication type:

Article

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2alanine residues is without clinical consequences.

Published in:

BMC Medical Genetics, 2007, v. 8, p. 78, doi. 10.1186/1471-2350-8-78

By:

Malik, Sajid;
Girisha, K. M.;
Wajid, Muhammad;
Roy, Akhilesh K.;
Phadke, Shubha R.;
Haque, Sayedul;
Ahmad, Wasim;
Koch, Manuela C.;
Grzeschik, Karl-Heinz

Publication type:

Article

Genetic variations of the FCER2 gene and asthma susceptibility in north Indian children: a case-control study.

Published in:

Biomarkers, 2013, v. 18, n. 8, p. 660, doi. 10.3109/1354750X.2013.840802

By:

Sharma, Neeraj;
Dixit, Pratibha;
Awasthi, Shally;
Phadke, Shubha R.

Publication type:

Article

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

Published in:

2020

By:

Rai, Archana;
Mandal, Kausik;
Saxena, Deepti;
Lallar, Meenakshi;
Phadke, Shubha R

Publication type:

Letter

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

Published in:

2019

By:

Narayanan, Dhanya Lakshmi;
Phadke, Shubha R.

Publication type:

journal article

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

Published in:

2018

By:

Mishra, Shivani;
Pandey, Himani;
Srivastava, Priyanka;
Mandal, Kausik;
Phadke, Shubha R.

Publication type:

journal article

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

Published in:

2018

By:

Singh, Bharti;
Mandal, Kausik;
Lallar, Meenakshi;
Narayanan, Dhanya Lakshmi;
Mishra, Shivani;
Gambhir, Poonam Singh;
Phadke, Shubha R.

Publication type:

Letter

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

Published in:

2018

By:

Moirangthem, Amita;
Phadke, Shubha R.

Publication type:

journal article

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

Published in:

2017

By:

Mangla, Pragya;
Gambhir, Poonam;
Sudhanshu, Siddhnath;
Srivastava, Priyanka;
Rai, Archana;
Bhatia, Vijayalakshmi;
Phadke, Shubha;
Gambhir, Poonam Singh;
Phadke, Shubha R

Publication type:

Case Study