Zoekresultaten - Katta M. Girisha

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  1. 1
    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function door Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    Gepubliceerd in 2018
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  2. 2
    Exome Sequencing Identifies a Dominant &lt;b&gt;&lt;i&gt;TNNT3&lt;/i&gt;&lt;/b&gt; Mutation in a Large Family with Distal Arthrogryposis

    Exome Sequencing Identifies a Dominant &lt;b&gt;&lt;i&gt;TNNT3&lt;/i&gt;&lt;/b&gt; Mutation in a Large Family with Distal Arthrogryposis door Sarah B. Daly, Hitesh Shah, James O’Sullivan, Beverley Anderson, Sanjeev S. Bhaskar, Simon Williams, Nada Al-Sheqaih, Abdul Mueed Bidchol, Siddharth Banka, William G. Newman, Katta M. Girisha

    Gepubliceerd in 2014
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  3. 3
    Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis

    Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis door Andrea Delle Vedove, Markus Storbeck, Raoul Heller, Irmgard Hölker, Malavika Hebbar, Anju Shukla, Ólafur Þ. Magnússon, Sebahattin Çırak, Katta M. Girisha, Mary O’Driscoll, Bart Loeys, Brunhilde Wirth

    Gepubliceerd in 2016
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  4. 4
    Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome

    Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome door Éliane Beauregard‐Lacroix, Alexandra J. Scott, Thi Tuyet Mai Nguyen, Klaas J. Wierenga, Gabriela Purcarin, Anne B. Karstensen, Daniel R. Carvalho, Jean‐Luc Alessandri, Frédérique Payet, Katta M. Girisha, Mathieu Ferron, Philippe M. Campeau

    Gepubliceerd in 2024
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  5. 5
    Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses

    Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses door Francyne Kubaski, Yasuyuki Suzuki, Kenji E. Orii, Roberto Giugliani, Heather J. Church, Robert W. Mason, Vũ Chí Dũng, Cấn Thị Bích Ngọc, Seiji Yamaguchi, Hironori Kobayashi, Katta M. Girisha, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu

    Gepubliceerd in 2016
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  6. 6
    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome door Silke B. Lohan, Malte Spielmann, Sandra C. Doelken, Ricarda Flöttmann, Fatima A. Muhammad, Shahid Mahmood Baig, Muhammad Wajid, Wiebke Hülsemann, R. Habenicht, Klaus Kjaer, Siddaramappa J. Patil, Katta M. Girisha, Hugo Hernán Abarca-Barriga, Stefan Mundlos, Eva Klopocki

    Gepubliceerd in 2014
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  7. 7
    The promise of discovering population-specific disease-associated genes in South Asia

    The promise of discovering population-specific disease-associated genes in South Asia door Nathan Nakatsuka, Priya Moorjani, Niraj Rai, Biswanath Sarkar, Arti Tandon, Nick Patterson, Gandham SriLakshmi Bhavani, Katta M. Girisha, Mohammed S. Mustak, Sudha Srinivasan, Amit Kaushik, Saadi Abdul Vahab, Sujatha Jagadeesh, Kapaettu Satyamoorthy, Lalji Singh, David Reich, Kumarasamy Thangaraj

    Gepubliceerd in 2017
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  8. 8
    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians

    A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians door Neethukrishna Kausthubham, Anju Shukla, Neerja Gupta, Gandham SriLakshmi Bhavani, Samarth Kulshrestha, Aneek Das Bhowmik, Amita Moirangthem, Sunita Bijarnia‐Mahay, Madhulika Kabra, Ratna Dua Puri, Kausik Mandal, Ishwar C. Verma, Stephanie Bielas, Shubha R. Phadke, Ashwin Dalal, Katta M. Girisha

    Gepubliceerd in 2021
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  9. 9
    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community

    Organization for rare diseases India (ORDI) – addressing the challenges and opportunities for the Indian rare diseases' community door Harsha Rajasimha, PRASANNAKUMAR BASAYYA SHIROL, Preveen Ramamoorthy, Madhuri Hegde, SANGEETA BARDE, Vijay Chandru, M. E. RAVINANDAN, Ramani Ramchandran, Kasturi Haldar, Jimmy Lin, Imran Babar, Katta M. Girisha, Sudha Srinivasan, Duraiswamy Navaneetham, Rajani Battu, RAJASHREE DEVARAKONDA, Usha Kini, Kinnimulki Vijayachandra, Ishwar C. Verma

    Gepubliceerd in 2014
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  10. 10
    Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

    Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency door Sarah Verheyen, Jasmin Blatterer, Michael R. Speicher, Gandham SriLakshmi Bhavani, Geert‐Jan Boons, Mai-Britt Ilse, Dominik Andrae, Jens Sproß, Frédéric M. Vaz, Susanne Gerit Kircher, Laura Posch-Pertl, Daniela Baumgartner, Torben Lübke, Hitesh Shah, Ali Al Kaissi, Katta M. Girisha, Barbara Plecko

    Gepubliceerd in 2021
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  11. 11
    Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

    Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation door Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M. Girisha, Anju Shukla, Shubha R. Phadke, Ratna Dua Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema S. Bhatwadekar, Frenny Sheth

    Gepubliceerd in 2019
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  12. 12
    Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

    Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability door Taimoor I. Sheikh, Nasim Vasli, Stephen F. Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, A. Hussain, Asif Mir, Omar Islam, Katta M. Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Z. Braun, Irmina García-Carpio, Andreas Villunger, John B. Vincent

    Gepubliceerd in 2021
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  13. 13
    Nosology of genetic skeletal disorders: 2023 revision

    Nosology of genetic skeletal disorders: 2023 revision door Sheila Unger, Carlos R. Ferreira, Geert Mortier, Houda Ali, Débora Romeo Bertola, Alistair Calder, Daniel H. Cohn, Valérie Cormier‐Daire, Katta M. Girisha, Christine M Hall, Deborah Krakow, Outi Mäkitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga

    Gepubliceerd in 2023
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  14. 14
    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

    Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease door Pelin Özlem Şimşek‐Kiper, Hiroaki Saito, Francesca Gori, Sheila Unger, Eric Hesse, Kei Yamana, Riku Kiviranta, Nicolas Solban, Jeff Liu, Robert Brommage, Koray Boduroğlu, Luisa Bonafé, Belinda Campos‐Xavier, Esra Dikoglu, Richard Eastell, Fatma Gossiel, Keith Harshman, Gen Nishimura, Katta M. Girisha, Brian J. Stevenson, Hiroyuki Takita, Carlo Rivolta, Andrea Superti‐Furga, Roland Baron

    Gepubliceerd in 2016
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  15. 15
    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome door Dorien Schepers, Alexander Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J. Willems, Sahar Mansour, Michael A. Simpson, Helena Frysira, Anneke Maat‐Kievit, Rick van Minkelen, Jeanette Hoogeboom, Geert Mortier, Hannah Titheradge, Louise Brueton, Lois J. Starr, Zornitza Stark, Charlotte W. Ockeloen, Charles Marques Lourenço, Ed Blair, Emma Hobson, Jane A. Hurst, Isabelle Maystadt, Anne Destrèe, Katta M. Girisha, Michelle S. Miller, Harry C. Dietz, Bart Loeys, Lut Van Laer

    Gepubliceerd in 2014
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  16. 16
    Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

    Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome door Huijun Wang, Aytaj Humbatova, Yuanxiang Liu, Wen Qin, Ming-Yang Lee, Nicole Cesarato, Fanny Kortüm, Sheetal Kumar, Maria Teresa Romano, Shangzhi Dai, Ran Mo, Sugirthan Sivalingam, Susanne Motameny, Yuan Wu, Xiaopeng Wang, Xinwu Niu, Songmei Geng, Dorothea Bornholdt, Peter M. Kroisel, Gianluca Tadini, Scott D. Walter, Fabian Hauck, Katta M. Girisha, Anne‐Marie Calza, Armand Bottani, Janine Altmüller, Andreas Buneß, Shuxia Yang, Xiujuan Sun, Lin Ma, Kerstin Kutsche, Karl‐Heinz Grzeschik, Regina C. Betz, Zhimiao Lin

    Gepubliceerd in 2020
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  17. 17
    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses door Nicole J. Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker‐Kettern, Laura S. Kremer, Angela Pyle, Jean-François Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Júlia Baptista, Emma L. Baple, Matthew N. Wakeling, Sean Massey, Daniel P. Kay, Anju Shukla, Katta M. Girisha, Leslie Lewis, Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz‐Pesini, Réka Kovács-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou, Carole L. Linster, Sian Ellard, Hákon Hákonarson

    Gepubliceerd in 2018
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  18. 18
    Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

    Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype door Julie Toubiana, Satoshi Okada, Julia Hiller, Matías Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, O Marie, Fanny Fouyssac, Katta M. Girisha, Amos Etzioni, Joris van Montfrans, Yıldız Çamcıoğlu, Leigh Ann Kerns, Bernd H. Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodríguez‐Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D. Renner, Sergio D. Rosenzweig, Bodo Grimbacher, Frank L. van de Veerdonk, Claudia Traidl‐Hoffmann, Capucine Pïcard, László Maródi, Tomohiro Morio, Masao Kobayashi, Desa Lilić, Joshua D. Milner, Steven M. Holland, Jean‐Laurent Casanova, Anne Puel

    Gepubliceerd in 2016
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  19. 19
    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

    Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism door Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan, Fanny Kortüm, Anju Shukla, Malik Alawi, Ashwin Dalal, Lauren Brady, Mark A. Tarnopolsky, Lynne M. Bird, Sophia Ceulemans, Martina Bebin, Kevin M. Bowling, Susan M. Hiatt, Edward J. Lose, Michelle Primiano, Wendy K. Chung, Jane Juusola, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Wu‐Lin Charng, Margaret Drummond‐Borg, Mohammad K. Eldomery, Ayman W. El‐Hattab, Mohammed A. Saleh, Stéphane Bézieau, Benjamin Cogné, Bertrand Isidor, Sébastien Küry, James R. Lupski, R Myers, Gregory M. Cooper, Kerstin Kutsche

    Gepubliceerd in 2016
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  20. 20
    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia

    Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia door Hae Ryung Chang, Sung Yoon Cho, Jae Hoon Lee, Eun‐Kyung Lee, Jieun Seo, Hyeran Lee, Denise P. Cavalcanti, Outi Mäkitie, Helena Valta, Katta M. Girisha, Chung Lee, Neethukrishna Kausthubham, Gandham SriLakshmi Bhavani, Anju Shukla, Sheela Nampoothiri, Shubha R. Phadke, Mi Jung Park, Shiro Ikegawa, Zheng Wang, Martin R. Higgs, Grant S. Stewart, Eun Young Jung, Myeong-Sok Lee, Jong Hoon Park, Eun A Lee, Hongtae Kim, Kyungjae Myung, Woosung Jeon, Kyoungyeul Lee, Dongsup Kim, Ok-Hwa Kim, Murim Choi, Han‐Woong Lee, Yonghwan Kim, Tae‐Joon Cho

    Gepubliceerd in 2019
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