PHADKE, SHUBHA R.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Polydactyly and genes

Shubha R. Phadke, V.H. Sankar

Journal:

Indian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 131 KB

english, 2010

52

COL1A1Mutation in an Indian Child with Caffey Disease

Prajnya Ranganath, Christine M. Laine, Divya Gupta, Outi Mäkitie, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 112 KB

english, 2011

53

Hemophilia Care in India: A Review and Experience from a Tertiary Care Centre in Uttar Pradesh

Journal:

Indian Journal of Hematology and Blood Transfusion

Year:

2011

Language:

english

File:

PDF, 165 KB

english, 2011

54

Prenatal diagnosis of Pompe disease — Enzyme assay or molecular testing?

R. Prajnya, C. Rehder, Shubha R. Phadke, D. Bali

Journal:

Indian Pediatrics

Year:

2011

Language:

english

File:

PDF, 463 KB

english, 2011

55

Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes

Neerja Gupta, Shubha R. Phadke

Journal:

Pediatric Dermatology

Year:

2006

Language:

english

File:

PDF, 148 KB

english, 2006

56

Recurrent Pregnancy Loss and Apolipoprotein E Gene Polymorphisms: A Case–Control Study from North India

Meenal Agarwal, Farah Parveen, Rehan Mujeeb Faridi, Shubha R. Phadke, Vinita Das, Suraksha Agrawal

Journal:

American Journal of Reproductive Immunology

Year:

2010

Language:

english

File:

PDF, 178 KB

english, 2010

57

Profile of patients with Von Gierke disease from India

Tamhankar, Parag M., Boggula, Vijayraju, Girisha, K. M., Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2012

Language:

english

File:

PDF, 500 KB

english, 2012

58

Morphometric analysis of face in dysmorphology

Ashwin B. Dalal, Shubha R. Phadke

Journal:

Computer Methods and Programs in Biomedicine

Year:

2007

Language:

english

File:

PDF, 1.48 MB

english, 2007

59

Diagnosis of Down Syndrome and Detection of Origin of Nondisjunction by Short Tandem Repeat Analysis

Jain, Shalu, Agarwal, Sarita, Panigrahi, Inusha, Tamhankar, Parag, Phadke, Shubha

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2010

Language:

english

File:

PDF, 3.04 MB

english, 2010

60

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

Ashwin Dalal, Sri Lakshmi Bhavani G, Padma Priya Togarrati, Tatjana Bierhals, Madhusudan R. Nandineni, Sumita Danda, Debashish Danda, Hitesh Shah, Sandeep Vijayan, Kalpana Gowrishankar, Shubha R Phadk

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 702 KB

english, 2012

61

Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve–Melchior–Clausen syndrome

K.M. Girisha, Valerie Cormier-Daire, Solange Heuertz, Rajendra V. Phadke, Shubha R. Phadke

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 773 KB

english, 2008

62

Use of ApoB3′ hyper variable region in studying mixed chimerism and maternal contamination in North Indian populations

Faisal Khan, Shubha Phadke, Soniya Nityanand, Sudha Talwar, Suraksha Agrawal

Journal:

Journal of Clinical Forensic Medicine

Year:

2004

Language:

english

File:

PDF, 218 KB

english, 2004

63

Arthralgia and limb pains: Pseudo-rheumatoid genetic disorders

Journal:

Indian Journal of Rheumatology

Year:

2012

Language:

english

File:

PDF, 2.87 MB

english, 2012

64

Vascular endothelial growth factor gene polymorphisms in North Indian patients with recurrent miscarriages

Shagun Aggarwal, Farah Parveen, Rehan Mujeeb Faridi, Shubha Phadke, Minal Borkar, Suraksha Agrawal

Journal:

Reproductive BioMedicine Online

Year:

2011

Language:

english

File:

PDF, 191 KB

english, 2011

65

Analysis of Short Stature Cases Referred for Genetic Evaluation

Anupriya Kaur, Shubha R. Phadke

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 86 KB

english, 2012

66

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population

Pallavi Shukla, Suman Vasisht, Ranjana Srivastava, Neerja Gupta, Manju Ghosh, Manoj Kumar, Raju Sharma, Arun K. Gupta, Punit Kaur, Mahesh Kamate, Sheffali Gulati, Veena Kalra, Shubha Phadke, Pratibha

Journal:

Journal of the Neurological Sciences

Year:

2011

Language:

english

File:

PDF, 663 KB

english, 2011

67

The Clinical Value of a ‘Limited Fetal Autopsy’ as Illustrated by 2 Cases

Anita K. Sharma, Shubha R. Phadke, M. Kamboj, S.S. Agarwal

Journal:

Australian and New Zealand Journal of Obstetrics and Gynaecology

Year:

1994

Language:

english

File:

PDF, 756 KB

english, 1994

68

Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder

Kumar, Ashok, Agarwal, Sarita, Agarwal, Divya, Phadke, Shubha R.

Journal:

Year:

2013

Language:

english

File:

PDF, 398 KB

english, 2013

69

Genetic insight of schizophrenia: past and future perspectives

singh, Shweta, Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Jaiswal, Yamini

Journal:

Year:

2014

Language:

english

File:

PDF, 203 KB

english, 2014

70

Oxidant–antioxidant imbalance in the serum of Myotonic Dystrophy type 1 (DM1) patients correlates with the progression of disease

Kumar, Ashok, Agarwal, Sarita, Pradhan, Sunil, Phadke, Shubha

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

71

Molecular analysis of mucopolysaccharidoses: identification and characterization of pathogenic mutations in Indian population

Uttarilli, Anusha, Jain, S Jamal, Dalal, Ashwin B, Ranganath, Prajnya, Phadke, Shubha R, Kumar, Girisha, Sankar, Null, Patil, SJ, Kabra, Madhulika, Danda, Sumita

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 64 KB

english, 2014

72

Cytogenetic microarray in prenatal and postnatal diagnosis

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

73

Microarray based global transcriptome profiling reveals involvement of non-Hsa21 genes and microRNAs in molecular mechanism of Down syndrome pathogenesis

Pathak, Ashutosh, Agarwal, Divya, Phadke, Shubha R

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 65 KB

english, 2014

74

Genetic testing in children

Phadke, Shubha, Gowda, Mamatha

Journal:

Indian Pediatrics

Year:

2013

Language:

english

File:

PDF, 445 KB

english, 2013

75

Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association

Gupta, Rekha, Agarwal, Meenal, Boqqula, Vijay R., Phadke, Rajendra V., Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 214 KB

english, 2014

76

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

Kumar, Ashok, Agarwal, Sarita, Phadke, Shubha R., Pradhan, Sunil

Journal:

Year:

2014

Language:

english

File:

PDF, 499 KB

english, 2014

77

Research Letters

Kandasamy, Subapriya, Saxena, Deepti, Kishore, Yougal, Phadke, Shubha R., Jani, R., Mihrshahi, S., Mandalika, S., Mallan, K. M.

Journal:

Indian Pediatrics

Year:

2014

Language:

english

File:

PDF, 510 KB

english, 2014

78

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

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

Journal:

Year:

2013

Language:

english

File:

PDF, 666 KB

english, 2013

79

De novo SOX11 mutations cause Coffin–Siris syndrome

Tsurusaki, Yoshinori, Koshimizu, Eriko, Ohashi, Hirofumi, Phadke, Shubha, Kou, Ikuyo, Shiina, Masaaki, Suzuki, Toshifumi, Okamoto, Nobuhiko, Imamura, Shintaro, Yamashita, Michiaki, Watanabe, Satoshi,

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 756 KB

english, 2014

80

GALNS mutations in Indian patients with mucopolysaccharidosis IVA

Bidchol, Abdul Mueed, Dalal, Ashwin, Shah, Hitesh, S, Suryanarayana, Nampoothiri, Sheela, Kabra, Madhulika, Gupta, Neerja, Danda, Sumita, Gowrishankar, Kalpana, Phadke, Shubha R., Kapoor, Seema, Kamat

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 362 KB

english, 2014

81

Genetic variation of TBX21 gene increases risk of asthma and its severity in Indian children

Sharma, Neeraj, Jaiswal, Indu, Mandal, Raju K, Phadke, Shubha R, Awasthi, Shally

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 462 KB

english, 2014

82

Platelet-specific collagen receptor glycoprotein VI gene variants affect recurrent pregnancy loss

Siddesh, Anjurani, Parveen, Farah, Misra, Maneesh Kumar, Phadke, Shubha R., Agrawal, Suraksha

Journal:

Fertility and Sterility

Year:

2014

Language:

english

File:

PDF, 469 KB

english, 2014

83

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

Stephen, Joshi, Shukla, Anju, Dalal, Ashwin, Girisha, Katta Mohan, Shah, Hitesh, Gupta, Neerja, Kabra, Madhulika, Dabadghao, Preeti, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 539 KB

english, 2014

84

Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF Genes as Risk Factors for Age-related Macular Degeneration in Indian Patients

Gupta, Divya, Gupta, Vani, Singh, Vinita, Chawla, Shobhit, Parveen, Farah, Agrawal, Suraksha, Phadke, Shubha R.

Journal:

Archives of Medical Research

Year:

2014

Language:

english

File:

PDF, 172 KB

english, 2014

85

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

Agrawal, Divya, Prakash, Swayam, Misra, Maneesh Kumar, Phadke, Shubha R., Agrawal, Suraksha

Journal:

Reproductive BioMedicine Online

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

86

Symmetrical Terminal Transverse Limb Deficiencies

Agarwal, Divya, Nayak, Shalini S., Adiga, Prashanth K., Phadke, Shubha R., Girisha, Katta M.

Journal:

Indian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 322 KB

english, 2015

87

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

Girisha, Katta M., Abdollahpour, Hengameh, Shah, Hitesh, Bhavani, Gandham SriLakshmi, Graham, John M., Boggula, Vijay Raju, Phadke, Shubha R., Kutsche, Kerstin

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 2.10 MB

english, 2014

88

Multiplex Quantitative Fluorescent Polymerase Chain Reaction for Detection of Aneuploidies

Jain, Shalu, Panigrahi, Inusha, Gupta, Rekha, Phadke, Shubha R., Agarwal, Sarita

Journal:

Genetic Testing and Molecular Biomarkers

Year:

2012

Language:

english

File:

PDF, 218 KB

english, 2012

89

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation

Patil, Siddaramappa J., Rai, Gaurava Kumar, Bhat, Venkatraman, Ramesh, Vakkalagadda A., Nagarajaram, H.A., Matalia, Jyoti, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.16 MB

english, 2014

90

THALASSEMIA INTERMEDIA: HETEROZYGOUS β -THALASSEMIA AND CO-INHERITANCE OF AN α GENE TRIPLICATION

Agarwal, Sarita, Sarwai, Swati, Agarwal, Savita, Gupta, Usha R., Phadke, Shubha

Journal:

Year:

2002

Language:

english

File:

PDF, 82 KB

english, 2002

91

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families

Stephen, Joshi, Girisha, Katta Mohan, Dalal, Ashwin, Shukla, Anju, Shah, Hitesh, Srivastava, Priyanka, Kornak, Uwe, Phadke, Shubha R.

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.53 MB

english, 2015

92

Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Gopalakrishnan, Vignesh, Joshi, Kriti, Phadke, Shubha, Dabadghao, Preeti, Agarwal, Meenal, Das, Vinita, Jain, Suruchi, Gambhir, Sanjay, Gupta, Bhaskar, Pandey, Amita, Kapoor, Deepa, Kumar, Mala, Bhati

Journal:

Indian Pediatrics

Year:

2014

Language:

english

File:

PDF, 474 KB

english, 2014

93

Erratum to: Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India

Gopalakrishnan, Vignesh, Joshi, Kriti, Phadke, Shubha, Dabadghao, Preeti, Agarwal, Meenal, Das, Vinita, Jain, Suruchi, Gambhir, Sanjay, Gupta, Bhaskar, Pandey, Amita, Kapoor, Deepa, Kumar, Mala, Bhati

Journal:

Indian Pediatrics

Year:

2015

Language:

english

File:

PDF, 270 KB

english, 2015

94

Prenatal diagnosis in India is not limited to sex selection

Dalal, Ashwin B., Ranganath, Prajnya, Phadke, Shubha R., Kabra, Madhulika, Danda, Sumita, Puri, Ratna Dua, V.H., Sankar, Gupta, Neerja, Patil, S.J., Mandal, Kausik, Tamhankar, Parag, Aggarwal, Shagun,

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 311 KB

english, 2015

95

The expanding spectrum of Elejalde syndrome

Phadke, Shubha R., Aggarwal, Shagun, Kumari, Niraj

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 238 KB

english, 2011

96

Severe short stature, profound microcephaly, developmental brain abnormality, agenesis of optic disc and retinal vessels, and bilateral cryptorchidism in two male siblings

Agarwal, Divya, Stephen, Joshi, Phadke, Rajendra V., Phadke, Shubha R.

Journal:

Clinical Dysmorphology

Year:

2014

Language:

english

File:

PDF, 269 KB

english, 2014

97

Feasibility Study of an Outreach Program of Newborn Screening in Uttar Pradesh

Agarwal, Meenal, Joshi, Kriti, Bhatia, Vijayalakshmi, Gopalakrishnan, Vignesh, Dabadghao, Preeti, Das, Vinita, Pandey, Amita, Kumar, Mala, Phadke, Shubha R.

Journal:

Indian Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 109 KB

english, 2015

98

White matter changes in GM1 gangliosidosis

Tuteja, Moni, Bidchol, Abdul Mueed, Girisha, Katta Mohan, Phadke, Shubha R.

Journal:

Indian Pediatrics

Year:

2015

Language:

english

File:

PDF, 420 KB

english, 2015

99

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

Muthuswamy, Srinivasan, Bhalla, Poonam, Agarwal, Sarita, Phadke, Shubha R.

Journal:

Year:

2015

Language:

english

File:

PDF, 722 KB

english, 2015

100

Atlantoaxial dislocation in a child affected by warfarin embryopathy

Agarwal, Meenal, Phadke, Shubha R.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 204 KB

english, 2013