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1

Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta

Mrosk, Julia, Gandham, SriLakshmi Bhavani, Shah, Hitesh, Hecht, Jochen, Krüger, Ulrike, Shukla, Anju, Kornak, Uwe, Girisha, Katta Mohan

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 2.48 MB

english, 2018

2

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency

Srivastava, Anshika, Srivastava, Kinshuk Raj, Hebbar, Malavika, Galada, Chelna, Kadavigrere, Rajagopal, Su, Fengyun, Cao, Xuhong, Chinnaiyan, Arul M., Girisha, Katta M., Shukla, Anju, Bielas, Stephani

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2018

3

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome

Somashekar, Puneeth H., Girisha, Katta M., Nampoothiri, Sheela, Gowrishankar, Kalpana, Rama Devi, Radha, Gupta, Neerja, Narayanan, Dhanya Lakshmi, Kaur, Anupriya, Bajaj, Shruti, Jagadeesh, Sujatha, Le

Journal:

Clinical Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2018

4

Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and NextâGeneration Sequencing

Narayanan, Dhanya Lakshmi, Girisha, Katta Mohan

Journal:

Indian Pediatrics

Année:

2020

Fichier:

PDF, 516 KB

2020

5

Genetic Disorders with Central Nervous System White Matter Abnormalities: An Update

Shukla, Anju, Kaur, Parneet, Narayanan, Dhanya Lakshmi, Rosario, Michelle C., Kadavigere, Rajagopal, Girisha, Katta Mohan

Journal:

Clinical Genetics

Année:

2020

Fichier:

PDF, 1.53 MB

2020

6

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

Année:

2020

Fichier:

PDF, 643 KB

2020

7

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation

Katta M. Girisha, Leslie E. Lewis, Shubha R. Phadke, Kerstin Kutsche

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 153 KB

english, 2010

8

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

Année:

2010

Langue:

english

Fichier:

PDF, 94 KB

english, 2010

9

Mucolipidosis type II α/β with a homozygous missense mutation in the GNPTAB gene

Maria Francisca Coutinho, Liliana da Silva Santos, Katta Mohan Girisha, Kapaettu Satyamoorthy, Lúcia Lacerda, Maria João Prata, Sandra Alves

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 206 KB

english, 2012

10

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype

Hitesh Shah, Susanne Bens, Almuth Caliebe, John M. Graham Jr, Katta Mohan Girisha

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 641 KB

english, 2012

11

Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

Bierhals, Tatjana, Maddukuri, Satish Babu, Kutsche, Kerstin, Girisha, Katta Mohan

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 230 KB

english, 2013

12

Analysis of cosegregation of intragenic DNA sequence variations as markers of maternal cell contamination in prenatal diagnosis of β-thalassemia

Abdul V. Saadi, Katta M. Girisha, Puthiya M. Gopinath, Kapaettu Satyamoorthy

Journal:

Translational Research

Année:

2011

Langue:

english

Fichier:

PDF, 333 KB

english, 2011

13

A Novel Frameshift Mutation inTWIST2Gene Causing Setleis Syndrome

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Sarpangala, Murali Keshava, Satyamoorthy, Kapaettu

Journal:

Indian Journal of Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 214 KB

english, 2014

14

CFTR mutations in India: Need to do more! GENETICIST’S PERSPECTIVE

Girisha, Katta M.

Journal:

Indian Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 353 KB

english, 2014

15

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

Année:

2014

Langue:

english

Fichier:

PDF, 539 KB

english, 2014

16

Symmetrical Terminal Transverse Limb Deficiencies

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

Journal:

Indian Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 322 KB

english, 2015

17

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia

Girisha, Katta M., Bidchol, Abdul Mueed, Kamath, Preeti S., Shah, Krupa H., Mortier, Geert R., Mundlos, Stefan, Shah, Hitesh

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 2.13 MB

english, 2014

18

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

Nampoothiri, Sheela, Yesodharan, Dhanya, Sainulabdin, Gazel, Narayanan, Dhanyalakshmi, Padmanabhan, Laxmi, Girisha, Katta Mohan, Cathey, Sara S., De Paepe, Anne, Malfait, Fransiska, Syx, Delfien, Henn

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 114 KB

english, 2014

19

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

Année:

2014

Langue:

english

Fichier:

PDF, 2.10 MB

english, 2014

20

Fetal akinesia deformation sequence: Expanding the phenotypic spectrum

Nayak, Shalini S., Kadavigere, Rajagopal, Mathew, Mary, Kumar, Pratap, Hall, Judith G., Girisha, Katta M.

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 609 KB

english, 2014

21

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.53 MB

english, 2015

22

Clinical utility of fetal autopsy and its impact on genetic counseling

Nayak, Shalini S., Shukla, Anju, Lewis, Leslie, Kadavigere, Rajagopal, Mathew, Mary, Adiga, Prashanth K., Vasudeva, Akhila, Kumar, Pratap, Shetty, Jyothi, Shah, Hitesh, Girisha, Katta M.

Journal:

Prenatal Diagnosis

Année:

2015

Langue:

english

Fichier:

PDF, 357 KB

english, 2015

23

Further characterization of acro-renal-uterine-mandibular syndrome

Girisha, Katta Mohan, Pratap, Deepika, Shah, Hitesh H.

Journal:

Clinical Dysmorphology

Année:

2012

Langue:

english

Fichier:

PDF, 143 KB

english, 2012

24

Is coloboma a feature of fetal valproate syndrome?

Shah, Krupa H., Shailaja, Sarpangala, Girisha, Katta M.

Journal:

Clinical Dysmorphology

Année:

2014

Langue:

english

Fichier:

PDF, 154 KB

english, 2014

25

Jejunal atresia and postaxial polydactyly

Girisha, Katta M., Nayak, Shalini S., Rawal, Asha, Roopa, Padavagodu S., Shetty, Jyothi

Journal:

Clinical Dysmorphology

Année:

2013

Langue:

english

Fichier:

PDF, 274 KB

english, 2013

26

Second report of slipped capital femoral epiphysis in Rubinstein–Taybi syndrome

Shah, Hitesh, Singh, Gurinder, Vijayan, Sandeep, Girisha, Katta M.

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 124 KB

english, 2011

27

Hypoplasia/aplasia of pelvis, femora, fibulae, ulna, digits and nails

Girisha, Katta Mohan, Vasudevan, Thanvanthri Gururajan, Saadi, Abdul Vahab, Shah, Hitesh, Gopinath, Puthiya Mundyat, Satyamoorthy, Kapaettu

Journal:

Clinical Dysmorphology

Année:

2011

Langue:

english

Fichier:

PDF, 168 KB

english, 2011

28

White matter changes in GM1 gangliosidosis

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

Journal:

Indian Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 420 KB

english, 2015

29

Research letters

Nayak, Shalini S., Shukla, Anju, Girisha, Katta M., Doreswamy, Srinivasa M., Chakkarapani, Aravanan A., Murthy, Prashanth, Devaraj Naik, K., Preetha, Remesh, Ramachandran, A. M., Nath, Divia

Journal:

Indian Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 470 KB

english, 2015

30

Novel Mutation in an Indian Patient with Transcobalamin II Deficiency

Bartakke, Sandip, Saindane, Avinash, Udgirkar, Vardhaman, Shrividya, S., Bhavani, Gandham SriLakshmi, Girisha, Katta M.

Journal:

Indian Journal of Pediatrics

Année:

2015

Langue:

english

Fichier:

PDF, 213 KB

english, 2015

31

What does fetal autopsy unmask in oligohydramnios?

Nayak, Shalini S., Shukla, Anju, Kodandapani, Sreelakshmi, Adiga, Prashanth K., Girisha, Katta M.

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 483 KB

english, 2015

32

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene

Girisha, Katta Mohan, Kortüm, Fanny, Shah, Hitesh, Alawi, Malik, Dalal, Ashwin, Bhavani, Gandham SriLakshmi, Kutsche, Kerstin

Journal:

European Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2015

33

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia

Cho, Sung Yoon, Bae, Jun-Seok, Kim, Nayoung K.D., Forzano, Francesca, Girisha, Katta Mohan, Baldo, Chiara, Faravelli, Francesca, Cho, Tae-Joon, Kim, Dongsup, Lee, Kyoung Yeul, Ikegawa, Shiro, Shim, Jo

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 786 KB

english, 2016

34

Editorial

Rai, Sumit, Girisha, Katta M.

Journal:

Indian Pediatrics

Année:

2016

Langue:

english

Fichier:

PDF, 257 KB

english, 2016

35

Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients

Girisha, Katta Mohan, Bidchol, Abdul Mueed, Graul-Neumann, Luitgard, Gupta, Ashish, Hehr, Ute, Lessel, Davor, Nader, Sean, Shah, Hitesh, Wickert, Julia, Kutsche, Kerstin

Journal:

BMC Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.79 MB

english, 2016

36

Identification and Characterization of 20 Novel Pathogenic Variants in 60 unrelated Indian patients with Mucopolysaccharidoses (MPS) type I and type II

Uttarilli, Anusha, Ranganath, Prajnya, Matta, Divya, Md Nurul Jain, Jamal, Prasad C, Krishna, Babu A, Sobhan, Girisha, Katta M, Verma, Ishwar C, Phadke, Shubha R, Mandal, Kausik, Puri, Ratna D, Aggarw

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.89 MB

english, 2016

37

Spectrum of urorectal septum malformation sequence

Shah, Krupa, Nayak, Shalini S., Shukla, Anju, Girisha, Katta M.

Journal:

Congenital Anomalies

Année:

2016

Langue:

english

Fichier:

PDF, 1.76 MB

english, 2016

38

Familial 7q11.23 duplication with variable phenotype

Patil, Siddaramappa J., Salian, Smrithi, Bhat, Venkaraman, Girisha, Katta Mohan, Shrivastava, Yash, VS, Kiran, Sapare, Anilkumar

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 367 KB

english, 2015

39

A novel EDARADD 5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

Chaudhary, Ajay K., Girisha, Katta M., Bashyam, Murali D.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 165 KB

english, 2016

40

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

Shukla, Anju, Mandal, Kausik, Patil, Siddaramappa J., Kishore, Yougal, Phadke, Shubha R., Girisha, Katta M.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2015

41

Milder form of pachydermoperiostosis: a report of four cases

Girisha, Katta Mohan, Mandal, Kausik, Phadke, Shubha Rajendra

Journal:

Clinical Dysmorphology

Année:

2009

Langue:

english

Fichier:

PDF, 315 KB

english, 2009

42

Phenotypic variability in patients with interstitial 6q21-q22 microdeletion and Acro-Cardio-Facial syndrome

Shukla, Anju, Hebbar, Malavika, Harms, Frederike L., Kadavigere, Rajagopal, Girisha, Katta M., Kutsche, Kerstin

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 538 KB

english, 2016

43

Congenital omphalocele and cleft palate in two fetuses

Upadhyay, Neha, Pai, Muralidhar V, Nayak, Shalini S, Girisha, Katta M, Shukla, Anju

Journal:

Congenital Anomalies

Année:

2016

Langue:

english

Fichier:

PDF, 248 KB

english, 2016

44

Torg???Winchester syndrome: lack of efficacy of pamidronate therapy

Phadke, Shubha R., Ramirez, Maria, DiFeo, Analisa, Martignetti, John A., Girisha, Katta M.

Journal:

Clinical Dysmorphology

Année:

2007

Langue:

english

Fichier:

PDF, 424 KB

english, 2007

45

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy

Girisha, Katta Mohan, Shukla, Anju, Trujillano, Daniel, Bhavani, Gandham SriLakshmi, Hebbar, Malavika, Kadavigere, Rajagopal, Rolfs, Arndt

Journal:

Clinical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 448 KB

english, 2016

46

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis

Daly, Sarah B., Shah, Hitesh, O'Sullivan, James, Anderson, Beverley, Bhaskar, Sanjeev, Williams, Simon, Al-Sheqaih, Nada, Mueed Bidchol, Abdul, Banka, Siddharth, Newman, William G., Girisha, Katta M.

Journal:

Molecular Syndromology

Année:

2014

Langue:

english

Fichier:

PDF, 824 KB

english, 2014

47

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1

Nayak, Shalini S., Salian, Smrithi, Shukla, Anju, Mathew, Mary, Girisha, Katta M.

Journal:

Congenital Anomalies

Année:

2016

Langue:

english

Fichier:

PDF, 269 KB

english, 2016

48

Metatropic dysplasia with a novel mutation inTRPV4

Narayanan, Dhanya Lakshmi, Bhavani, Gandham SriLakshmi, Girisha, Katta Mohan, Phadke, Shubha R.

Journal:

Indian Pediatrics

Année:

2016

Langue:

english

Fichier:

PDF, 513 KB

english, 2016

49

Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

Delle Vedove, Andrea, Storbeck, Markus, Heller, Raoul, Hölker, Irmgard, Hebbar, Malavika, Shukla, Anju, Magnusson, Olafur, Cirak, Sebahattin, Girisha, Katta M., O’Driscoll, Mary, Loeys, Bart, Wirth, B

Journal:

The American Journal of Human Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.66 MB

english, 2016

50

Unusual skin manifestations in a patient with menkes disease

Gupta, Divya, Rao, Raghavendra, Girisha, Katta M., Stephen, Joshi, Phadke, Shubha R.

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 420 KB

english, 2016