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1

[IEEE Conference Proceedings. Annual International Conference of the IEEE Engineering in Medicine and Biology Society - New York, NY (2006.08.30-2006.09.3)] 2006 International Conference of the IEEE Engineering in Medicine and Biology Society - A Low-Cost Scalable Multichannel Digital Receiver for Magnetic Resonance Imaging

Dalal, Ishaan L., Kirpalani, Ashwin L., Fontaine, Fred L.

Year:

2006

Language:

english

File:

PDF, 383 KB

english, 2006

2

Sickle Cell Anemia—Molecular Diagnosis and Prenatal Counseling: SGPGI Experience

Ravindra Kumar, Inusha Panigrahi, Ashwin Dalal, Sarita Agarwal

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 229 KB

english, 2012

3

Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI

Kantaputra, Piranit Nik, Kayserili, Hülya, Güven, Yeliz, Kantaputra, Warissara, Balci, Mehmet C., Tanpaiboon, Pranoot, Uttarilli, Anusha, Dalal, Ashwin

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 735 KB

english, 2014

4

Splice, Insertion-Deletion and Nonsense Mutations that Perturb the Phenylalanine Hydroxylase Transcript Cause Phenylketonuria in India

Bashyam, Murali D., Chaudhary, Ajay K., Kiran, Manjari, Nagarajaram, Hampapathalu A., Devi, Radha Rama, Ranganath, Prajnya, Dalal, Ashwin, Bashyam, Leena, Gupta, Neerja, Kabra, Madhulika, Muranjan, Ma

Journal:

Journal of Cellular Biochemistry

Year:

2014

Language:

english

File:

PDF, 1.68 MB

english, 2014

5

[IEEE 2006 International Conference of the IEEE Engineering in Medicine and Biology Society - New York, NY, USA (2006.08.30-2006.09.3)] 2006 International Conference of the IEEE Engineering in Medicine and Biology Society - A Low-Cost Scalable Multichannel Digital Receiver for Magnetic Resonance Imaging

Dalal, Ishaan L., Kirpalani, Ashwin L., Fontaine, Fred L.

Year:

2006

Language:

english

File:

PDF, 383 KB

english, 2006

6

Autopsy findings in EPG5-related Vici syndrome with antenatal onset: Additional report of Focal cortical microdysgenesis in a second trimester fetus

Aggarwal, Shagun, Tandon, Ashwani, Bhowmik, Aneek Das, Dalal, Ashwin

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 4.51 MB

english, 2017

7

“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

Nagarajan, Krishnan, Swamiappan, Elango, Anbazhagan, Sathiaprabhu, Dalal, Ashwin, Adithan, Subathra, Krings, Timo

Journal:

Interventional Neuroradiology

Year:

2018

Language:

english

File:

PDF, 786 KB

english, 2018

8

Breakpoint mapping of a novel de novo translocation t(X;20)(q11.1;p13) by positional cloning and long read sequencing

Dutta, Usha R., Rao, Sudha N., Pidugu, Vijaya Kumar, V.S., Vineeth, Bhattacherjee, Amrita, Bhowmik, Aneek Das, Ramaswamy, Sathish K., Singh, Kumar Gautam, Dalal, Ashwin

Journal:

Year:

2018

Language:

english

File:

PDF, 1.81 MB

english, 2018

9

Diagnosis and Management of Gaucher Disease in India – Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics

Puri, Ratna Dua, Kapoor, Seema, Kishnani, Priya S., Dalal, Ashwin, Gupta, Neerja, Muranjan, Mamta, Phadke, Shubha R., Sachdeva, Anupam, Verma, Ishwar C., Mistry, Pramod K.

Journal:

Indian Pediatrics

Year:

2018

Language:

english

File:

PDF, 529 KB

english, 2018

10

Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?

Tallapaka, Karthik, Aggarwal, Shagun, Bhattacherjee, Amrita, Das Bhowmik, Aneek, Dalal, Ashwin

Journal:

Molecular Syndromology

Year:

2019

File:

PDF, 751 KB

2019

11

Untapped opportunities for rare disease gene discovery in India

Girisha, Katta Mohan, Pande, Shruti, Dalal, Ashwin, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 643 KB

2020

12

Giuffrè–Tsukahara syndrome: Evidence for X-linked dominant inheritance and review

Ashwin B. Dalal, Anujit Sarkar, T. Padma Priya, Madhusudan R. Nandineni

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

13

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

Ashwin B. Dalal, Shubha R. Phadke

Journal:

Journal of Clinical Ultrasound

Year:

2006

Language:

english

File:

PDF, 270 KB

english, 2006

14

Urorectal septum malformation presenting as nonimmune hydrops fetalis

Pradhan Mandakini, Dalal Ashwin, R. Manisha, V. H. Sankar, Kumari Niraj, Krishnani Narendra, Kishore Janak

Journal:

Prenatal Diagnosis

Year:

2006

Language:

english

File:

PDF, 99 KB

english, 2006

15

Hemihyperplasia syndromes

Ashwin B. Dalal, Shubha R. Phadke, Mandakini Pradhan, Sheetal Sharda

Journal:

Indian Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 1.67 MB

english, 2006

16

A novel beta-globin mutation (HBB:c.107A>G; or codon 35

Ravindra Kumar, Parag M. Tamhankar, Inusha Panigrahi, Ashwin Dalal, Sarita Agarwal

Journal:

Annals of Hematology

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

17

Compound heterozygosity for HbD Punjab and polyadenylation signal mutation causes clinically asymptomatic mild hypochromia and microcytosis

Katta Mohan Girisha, Saadi Abdul Vahab, Ashwin B. Dalal, P. M. Gopinath, K. Satyamoorthy

Journal:

Annals of Hematology

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

18

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Usha R. Dutta, P. Rajitha, Vijaya Kumar Pidugu, Ashwin B. Dalal

Journal:

Journal of Assisted Reproduction and Genetics

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

19

Case reports

Rajlakshmi Viswanathan, A. K. Singh, C. Ghosh, S. Basu, Rajitha Ponnala, Ashwin Dalal, Andy Wood, Lora Kleis, Helga Toriello, Ayse Pinar Cemeroglu, Mary Megha, Naveen Jain, Ramakrishna Pillai, Aabha N

Journal:

Indian Pediatrics

Year:

2011

Language:

english

File:

PDF, 160 KB

english, 2011

20

Confirmation of the Zechi-Ceide syndrome

Siddaramappa J. Patil, Venkatraman Bhat, Ashwin Dalal, J. Samuel Santosh

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

21

Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling

Siddram J. Patil, Rajitha Ponnala, Sejal Shah, Ashwin Dalal

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 299 KB

english, 2012

22

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

23

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

24

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

Murali D. Bashyam, Ajay K. Chaudhary, Manjari Sinha, H.A. Nagarajaram, A. Radha Rama Devi, Leena Bashyam, E. Chandrakanth Reddy, Ashwin Dalal

Journal:

Journal of Cellular Biochemistry

Year:

2012

Language:

english

File:

PDF, 1.37 MB

english, 2012

25

Fertility in men with Down syndrome: a case report

Mandakini Pradhan, Ashwin Dalal, Faisal Khan, Suraksha Agrawal

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 63 KB

english, 2006

26

Mosaic Down syndrome with a marker: Molecular cytogenetic characterization of the marker chromosome

Usha R. Dutta, Vijaya Kumar Pidugu, Venkatesh Goud, Ashwin B. Dalal

Journal:

Year:

2012

Language:

english

File:

PDF, 988 KB

english, 2012

27

64. GM1-gangliosidosis presenting as nonimmune hydrops fetalis: Another case report

Neerja Gupta, Vatsla Dadhwal, Kanan Venketnarayan, Anu Thukral, Ranjana Shrivastava, Ramesh Agarwal, Ashwin Dalal, Deepika Deka, Suman Vashisht, Madhulika Kabra

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

28

Tuberous Sclerosis: Diagnosis and Prenatal Diagnosis by MLPA

T. Padma Priya, Ashwin B. Dalal

Journal:

Indian Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 305 KB

english, 2012

29

Spectrum of lysosomal storage disorders at a medical genetics center in Northern India

Prashant K. Verma, Prajnya Ranganath, Ashwin B. Dalal…

Journal:

Indian Pediatrics

Year:

2012

Language:

english

File:

PDF, 518 KB

english, 2012

30

Identification and molecular cytogenetic characterization of a novel complex Y chromosome rearrangement in a boy with disorder of sexual development

Dutta, Usha R., Pidugu, Vijaya Kumar, Goud, Ch. Venkateshwar, Hoefers, Christiane, Hagemann, Monika, Dalal, Ashwin

Journal:

Year:

2013

Language:

english

File:

PDF, 1009 KB

english, 2013

31

Protein structure prediction for novel mutations in Arylsulfatase-A gene

Divya, M, Jain, S Jamal, Phadke, SR, Kishore, Ratna, Kamate, Mahesh, Gupta, Neerja, Dalal, Ashwin

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 78 KB

english, 2014

32

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

33

Use of array CGH for molecular characterization of genetic disorders

Bahal, Ashish, Null, Rajitha P, Dalal, Ashwin

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 76 KB

english, 2014

34

Molecular basis of lysosomal storage disorders in India

Kondurkar, Shweta P, Tamhankar, Parag, Kondurkar, Pratima, Dalal, Ashwin, Sheth, Jayesh

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 69 KB

english, 2014

35

A Balanced Reciprocal Translocation T (X;20) in A Girl with Seizures and Intellectual Disability Disrupting ARHGEF9

Dutta, Usha R, Pidugu, Vijaya Kumar, Kalscheuer, Vera M, Dalal, Ashwin B

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

36

Molecular cytogenetic characterization of chromosomal rearrangements - utility in genetic counseling and research

Journal:

Molecular Cytogenetics

Year:

2014

Language:

english

File:

PDF, 73 KB

english, 2014

37

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Aggarwal, Shagun, Coutinho, Maria Francisca, Dalal, Ashwin B., Mohamed Nurul Jain, S.Jamal, Prata, Maria João, Alves, Sandra

Journal:

Year:

2014

Language:

english

File:

PDF, 637 KB

english, 2014

38

A novel combined 15q11.2 duplication and a bisatellited supernumerary marker derived from chromosome 22: Molecular characterization of the marker

Dutta, Usha R., Vempally, Subhash, Ranganath, Prajnya, Dalal, Ashwin

Journal:

Year:

2014

Language:

english

File:

PDF, 942 KB

english, 2014

39

One-year clinical outcomes of BioMatrix™-Biolimus A9™ eluting stent: The e-BioMatrix multicenter post marketing surveillance registry in India

Mehta, Ashwin B., Chandra, Praveen, Dalal, Jamshed, Shetty, Prabhakar, Desai, Devang, Chocklingam, K., Prajapati, Jayesh, Kumar, Pramod, Magarkar, Vilas, Vasawada, Apurva, Goyal, B.K., Kumar, Viveka,

Journal:

Indian Heart Journal

Year:

2013

Language:

english

File:

PDF, 344 KB

english, 2013

40

Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann–Streiff–Francois syndrome

Muthugaduru, Deepa Jagadish, Sahu, Chinmaya, Ali, Mohammad Javed, Dalal, Ashwin, Jalali, Subhadra

Journal:

Documenta Ophthalmologica

Year:

2013

Language:

english

File:

PDF, 444 KB

english, 2013

41

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

42

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

43

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

Kantaputra, Piranit Nik, Kayserili, Hulya, Guven, Yeliz, Kantaputra, Warissara, Balci, Mehmet C., Tanpaiboon, Pranoot, Tananuvat, Napaporn, Uttarilli, Anusha, Dalal, Ashwin

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.33 MB

english, 2014

44

Novel ABCA12 mutations in harlequin ichthyosis: A journey from photo diagnosis to prenatal diagnosis

Aggarwal, Shagun, Kar, Anjana, Bland, Philip, Kelsell, David, Dalal, Ashwin

Journal:

Year:

2015

Language:

english

File:

PDF, 707 KB

english, 2015

45

Molecular genetic analysis of trinucleotide repeat disorders (TRDs) in Indian population and application of repeat primed PCR

Das Bhowmik, Aneek, Rangaswamaiah, Savithri, Srinivas, G., Dalal, Ashwin B.

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

46

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

47

MTHFR 677C→T and 1298A→C Polymorphisms: Evaluation of Maternal Genotypic Risk and Association with Level of Neural Tube Defect

Dalal, Ashwin, Pradhan, Mandakini, Tiwari, Deepshikha, Behari, Sanjay, Singh, Uttam, Mallik, G.K., Das, Vinita, Agarwal, Sarita

Journal:

Gynecologic and Obstetric Investigation

Year:

2007

Language:

english

File:

PDF, 125 KB

english, 2007

48

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

49

Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum

Ranganath, Prajnya, Dalal, Ashwin B.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 228 KB

english, 2013

50

GAPO syndrome with deafness

Aggarwal, Shagun, Uttarilli, Anusha, Dalal, Ashwin B.

Journal:

Clinical Dysmorphology

Year:

2013

Language:

english

File:

PDF, 191 KB

english, 2013