Search Results - "Bhatt, Samarth S"

Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish by Reichwald, Kathrin, Petzold, Andreas, Koch, Philipp, Downie, Bryan R., Hartmann, Nils, Pietsch, Stefan, Baumgart, Mario, Chalopin, Domitille, Felder, Marius, Bens, Martin, Sahm, Arne, Szafranski, Karol, Taudien, Stefan, Groth, Marco, Arisi, Ivan, Weise, Anja, Bhatt, Samarth S., Sharma, Virag, Kraus, Johann M., Schmid, Florian, Priebe, Steffen, Liehr, Thomas, Görlach, Matthias, Than, Manuel E., Hiller, Michael, Kestler, Hans A., Volff, Jean-Nicolas, Schartl, Manfred, Cellerino, Alessandro, Englert, Christoph, Platzer, Matthias

“…The killifish Nothobranchius furzeri is the shortest-lived vertebrate that can be bred in the laboratory. Its rapid growth, early sexual maturation, fast…”
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BNDF methylation in mothers and newborns is associated with maternal exposure to war trauma by Kertes, Darlene A, Bhatt, Samarth S, Kamin, Hayley S, Hughes, David A, Rodney, Nicole C, Mulligan, Connie J

“…The gene codes for brain-derived neurotrophic factor, a growth factor involved in neural development, cell differentiation, and synaptic plasticity. Present in…”
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Children's Relationship With Their Pet Dogs and OXTR Genotype Predict Child-Pet Interaction in an Experimental Setting by Kertes, Darlene A, Hall, Nathan, Bhatt, Samarth S

“…Human-animal interaction (HAI) research has increasingly documented the important role of pet dogs in children's lives. The quality of interaction between…”
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture by Vissers, Lisenka E.L.M., Bhatt, Samarth S., Janssen, Irene M., Xia, Zhilian, Lalani, Seema R., Pfundt, Rolph, Derwinska, Katarzyna, de Vries, Bert B.A., Gilissen, Christian, Hoischen, Alexander, Nesteruk, Monika, Wisniowiecka-Kowalnik, Barbara, Smyk, Marta, Brunner, Han G., Cheung, Sau Wai, van Kessel, Ad Geurts, Veltman, Joris A., Stankiewicz, Pawel

“…Genomic copy number variation (CNV) plays a major role in various human diseases as well as in normal phenotypic variability. For some recurrent…”
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Effect of Pet Dogs on Children's Perceived Stress and Cortisol Stress Response by Kertes, Darlene A., Liu, Jingwen, Hall, Nathan J., Hadad, Natalie A., Wynne, Clive D. L., Bhatt, Samarth S.

“…The present study tested whether pet dogs have stress‐buffering effects for children during a validated laboratory‐based protocol, the Trier Social Stress Test…”
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Dehydroepiandrosterone at birth: Response to stress and relation to demographic, pregnancy and delivery factors by Kamin, Hayley S., Bhatt, Samarth S., Mulligan, Connie J., Kertes, Darlene A.

“…Enhanced production of dehydroepiandrosterone (DHEA) by the foetal hypothalamic‐pituitary‐adrenal (HPA) axis enables maturational events critical for labour…”
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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations by Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles

“…Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, neonatally lethal developmental disorder of the lung with defining…”
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes by Beaudet, Arthur L, Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Stankiewicz, Pawel

“…We report a recurrent 680-kb deletion within chromosome 15q13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including…”
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Putting a finger on the problem: Finger stick blood draw and immunization at the well-child exam elicit a cortisol response to stress among one-year-old children by Kertes, Darlene A., Kamin, Hayley S., Liu, Jingwen, Bhatt, Samarth S., Kelly, Maria

“…•Finger stick blood draw and immunization successfully elicited a cortisol stress response among one-year-old children.•Demographic and clinical…”
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Stability and change in predictors of stress responsivity in infancy by Kertes, Darlene A, Liu, Jingwen, Kamin, Hayley, Bhatt, Samarth S, Kelly, Maria

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Maternal Distress and Child Temperament Interact in Predicting Infant Cortisol Stress Responses by Kamin, Hayley S, Liu, Jingwen, Bhatt, Samarth S, Kelly, Maria N, Kertes, Darlene A

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Maternal stress predicts methylation of genes regulating the HPA axis in mothers and newborns in the Democratic Republic of Congo by Kertes, Darlene A, Kamin, Hayley, Hughes, David A, Rodney, Nicole, Bhatt, Samarth S, Mulligan, Connie J

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Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability by Maduro, Valerie, Pusey, Barbara N, Cherukuri, Praveen F, Atkins, Paul, du Souich, Christèle, Rupps, Rosemarie, Limbos, Marjolaine, Adams, David R, Bhatt, Samarth S, Eydoux, Patrice, Links, Amanda E, Lehman, Anna, Malicdan, May C, Mason, Christopher E, Morimoto, Marie, Mullikin, James C, Sear, Andrew, Van Karnebeek, Clara, Stankiewicz, Pawel, Gahl, William A, Toro, Camilo, Boerkoel, Cornelius F

“…Mutations of TCF4, which encodes a basic helix-loop-helix transcription factor, cause Pitt-Hopkins syndrome (PTHS) via multiple genetic mechanisms. TCF4 is a…”
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A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion by Rodríguez, Laura, Bhatt, Samarth S., García-Castro, Mónica, Plasencia, Ana, Fernández-Toral, Joaquín, Abarca, Elena, de Bello Cioffi, Marcelo, Liehr, Thomas

“…Until now, few cases of partial trisomy of 3q due to segregation error of parental balanced translocation and segregation of a duplicated deficient product…”
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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats by Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.

“…We report 24 unrelated individuals with deletions and 17 additional cases with duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The…”
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Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder by Erez, Ayelet, Patel, Amina J., Wang, Xueqing, Xia, Zhilian, Bhatt, Samarth S., Craigen, William, Cheung, Sau Wai, Lewis, Richard A., Fang, Ping, Davenport, Sandra L. H., Stankiewicz, Pawel, Lalani, Seema R.

“…Mutations in the cyclin-dependent kinase-like 5 ( CDKL5 ) gene in Xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a…”
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Loss of sex chromosome in acute myeloid leukemia by Bakshi Sonal R, Kakadia Purvi M, Brahmbhatt Manisha M, Trivedi Pina J, Rawal Shwetal M, Bhatt Samarth S, Parikh Bharat J, Patel Kirti M, Shukla Shilin N , Shah Pankaj M

“…Loss of sex chromosomes has been reported in normal and malignant marrows and its frequency increases with age in both situations. It is not clear whether the…”
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Fluorescence in situ hybridization studies: break apart or not? by Bakshi, Sonal R, Brahmbhatt, Manisha M, Trivedi, Pina J, Rawal, Shwetal M, Kakadia, Purvi M, Bhatt, Samarth S

“…Sir, We would like to share our experience with acute promyelocytic leukemia (APML) molecular cytogenetic studies. Recent debate regarding interpretation of…”
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Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis by Bhatt, S S, Manvelyan, M, Moradkhani, K, Hunstig, F, Mrasek, K, Puechberty, J, Lefort, G, Sarda, P, Weise, A, Liehr, T, Pellestor, F

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A small recurrent deletion within 15g13.3 is associated with a range of neurodevelopmental phenotypes by Shinawi, Marwan, Schaaf, Christian P, Bhatt, Samarth S, Xia, Zhilian, Patel, Ankita, Cheung, Sau Wai, Lanpher, Brendan, Nagl, Sandra, Herding, Heinrich Stephan, Nevinny-Stickel, Claudia, Immken, LaDonna L, Patel, Gayle Simpson, German, Jennifer Ruth, Beaudet, Arthur L, Stankiewicz, Pawel

“…We report a recurrent 680-kb deletion within chromosome 15g13.3 in ten individuals, from four unrelated families, with neurodevelopmental phenotypes including…”
Get full text