Search Results - "Kotecha, Udhaya"

Genetic tool used to diagnose achromatopsia: first case report from India by Pritti, Kumari, Mishra, Vineet, Kotecha, Udhaya, Aggarwal, Somesh

“…Background Achromatopsia is an autosomal recessive disease characterized by poor visual acuity, lack of color vision, nystagmus, and marked photophobia. The…”
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The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy by Goyal, Manisha, Bharadia, Lalit, Gupta, Ashok, Kotecha, Udhaya

“…Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has…”
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P717: The landscape of clinical geneticists’ perspectives and practices in India by Patil, Sushma, Kotecha, Udhaya, Sharda, Sheetal, Shah, Parth, Shah, Nidhi

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P598: Gene-disease validity assessments in pediatric movement disorders: Prospective experience and retrospective analysis of concordance with expert curated panels by Kotecha, Udhaya, Chand Rayabarapu, Pranav, Mistri, Mehul, Thakur, Nupur, Shah, Parth, Shah, Nidhi

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The diagnostic utility of exome‐based carrier screening in families with a positive family history by Kotecha, Udhaya Hardik, Mistri, Mehul, Rayabarapu, Pranavchand, Shah, Parth, Shah, Nidhi

“…Identification of disease‐causing variants in families with a history of a suspected recessive disorder is essential for appropriate counseling and…”
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Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India by Bhattad, Sagar, Mohite, Rachna S., Singh, Neha, Kotecha, Udhaya, Jhawar, Prerna, Ramprakash, Stalin, Commondoor, Raghuram, Jayaram, Ananthvikas, Rayabarapu, Pranavchand, Kumar, Harish, Unni, Jeeson, Cyril, Gladys, Kumar, Suresh, Pachat, Divya, Jakka, Shrinivas, Makam, Adinarayana, Porta, Fulvio, Ginigeri, Chetan

“…Primary immune deficiencies or inborn errors of immunity (IEI) are a heterogeneous group of disorders that predispose affected individuals to infections,…”
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Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene by Kotecha, Udhaya H, Movva, Sireesha, Sharma, Deepak, Verma, Jyotsna, Puri, Ratna Dua, Verma, Ishwar Chander

“…Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family…”
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P472: Exploring diagnostic yield and challenges in exome sequencing in highly consanguineous Tamil Nadu cohort from South India by Rajakumar, Nivedita, Krishnakumar, Manaswini, Kotecha, Udhaya, Ranganath, Priya, Prajapati, Ashka, Chandramohan, Rema, D, Anuradha, MS, Kalpana, Pradeepa, Annie, Sharda, Sheetal, Shah, Parth, Shah, Nidhi

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Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature by Vuillaume, Marie-Laure, Moizard, Marie-Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean-Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

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Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene by Asegaonkar, Prashant, Kotecha, Udhaya, Dongre, Mayuresh, Mistri, Mehul, Sharda, Sheetal

“…De novo heterozygous ADNP variants have been associated with a complex neurological phenotype characterized primarily by neurodevelopmental delay. Cardiac and…”
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Familial Cold Autoinflammatory Syndrome Type 1 by Mohite, Rachna Shanbhag, Kotecha, Udhaya, Bhattad, Sagar

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Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family by Kotecha, Udhaya, Mistri, Mehul, Shah, Nidhi, Shah, Parth S., Gupta, Vandana A.

“…GOGLA2/GM130 is a Golgin protein involved in vesicle tethering, cell proliferation and autophagy. Recessive loss of function mutation in GOLGA2 has been…”
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A Rare Case of Microduplication on Chromosome 13 Detected as High Risk for Trisomy 13 on NIPT Screening by Murarka, Shiva, Kotecha, Udhaya, Pamnani, Dirgha, Shah, Parth, Sharda, Sheetal

“…Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility for aneuploidies for…”
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Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study by Bhattad, Sagar, Singh, Neha, Janardhanan, Jyothi, Kumar, Harish, Ali, Syed Mohammed Naushad, Arigela, Karthik, Kundaragi, Nischal, Vidyashankar, P, Kotecha, Udhaya, Ginigeri, Chetan

“…To study the clinical, laboratory profile and outcome of juvenile Systemic Lupus Erythematosus (jSLE) patients at a tertiary care centre in South India. A…”
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Detecting Mosaicism of Monosomy X Using FISH in Prenatal Samples: Post High Risk NIPT by Murarka, Shiva, Biswas, Debaashish, Bhatt, Samarth, Mistry, Krishna, Kotecha, Udhaya, Shah, Parth, Sharda, Sheetal

“…Abstract Noninvasive prenatal testing (NIPT) is a highly specific and sensitive aneuploidy screening method with low false positive results. Sex chromosome…”
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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting by Pranav Chand, Rayabarapu, Vinit, Wankhede, Vaidya, Varsha, Iyer, Anand Subramaniam, Shelke, Madhavi, Aggarwal, Shagun, Magar, Suvarna, Danda, Sumita, Moirangthem, Amita, Phadke, Shubha Rajendra, Goyal, Manisha, Ranganath, Prajnya, Mistri, Mehul, Shah, Parth, Shah, Nidhi, Kotecha, Udhaya Hardik

“…Whole exome sequencing is recommended as the first tier test for neurodevelopmental disorders (NDDs) with trio being an ideal option for the detection of de…”
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Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature by Addissie, Yonit A., Kotecha, Udhaya, Hart, Rachel A., Martinez, Ariel F., Kruszka, Paul, Muenke, Maximilian

“…Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras‐mitogen‐activated protein…”
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Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature by Vuillaume, Marie‐Laure, Moizard, Marie‐Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean‐Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

“…Simpson‐Golabi‐Behmel syndrome (SGBS) is an X‐linked multiple congenital anomalies and overgrowth syndrome caused by a defect in the glypican‐3 gene (GPC3)…”
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Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature by Vuillaume, Marie‐Laure, Moizard, Marie‐Pierre, Rossignol, Sylvie, Cottereau, Edouard, Vonwill, Sandrine, Alessandri, Jean‐Luc, Busa, Tiffany, Colin, Estelle, Gérard, Marion, Giuliano, Fabienne, Lambert, Laetitia, Lefevre, Mathilde, Kotecha, Udhaya, Nampoothiri, Sheela, Netchine, Irène, Raynaud, Martine, Brioude, Frédéric, Toutain, Annick

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Clinical and molecular characterization of Indian patients with fructose‐1, 6‐bisphosphatase deficiency: Identification of a frequent variant (E281K) by Bhai, Pratibha, Bijarnia‐Mahay, Sunita, Puri, Ratna D., Saxena, Renu, Gupta, Deepti, Kotecha, Udhaya, Sachdev, Anil, Gupta, Dhiren, Vyas, Vyomesh, Agarwal, Divya, Jain, Vivek, Bansal, Rajeev K., Kumar, Tapisha G., Verma, Ishwar Chander

“…Fructose‐1, 6‐bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by…”
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