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1.

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Sanchis-Juan, Alba; Megy, Karyn; Stephens, Jonathan; Armirola Ricaurte, Camila; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C; Gleadall, Nicholas; Duarte, Sofia T; Hedrera-Fernández, Antonio; Vogt, Julie; Ambegaonkar, Gautam; Chitre, Manali; Josifova, Dragana; Kurian, Manju A; Parker, Alasdair; Rankin, Julia; Reid, Evan; Wakeling, Emma; Wassmer, Evangeline; Woods, C Geoffrey; Raymond, F Lucy; Carss, Keren J.

Am J Hum Genet; 110(8): 1343-1355, 2023 08 03.

Artículo en Inglés | MEDLINE | ID: mdl-37541188

2.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.

Johannesen, Katrine M; Iqbal, Sumaiya; Guazzi, Milena; Mohammadi, Nazanin A; Pérez-Palma, Eduardo; Schaefer, Elise; De Saint Martin, Anne; Abiwarde, Marie Therese; McTague, Amy; Pons, Roser; Piton, Amelie; Kurian, Manju A; Ambegaonkar, Gautam; Firth, Helen; Sanchis-Juan, Alba; Deprez, Marie; Jansen, Katrien; De Waele, Liesbeth; Briltra, Eva H; Verbeek, Nienke E; van Kempen, Marjan; Fazeli, Walid; Striano, Pasquale; Zara, Federico; Visser, Gerhard; Braakman, Hilde M H; Haeusler, Martin; Elbracht, Miriam; Vaher, Ulvi; Smol, Thomas; Lemke, Johannes R; Platzer, Konrad; Kennedy, Joanna; Klein, Karl Martin; Au, Ping Yee Billie; Smyth, Kimberly; Kaplan, Julie; Thomas, Morgan; Dewenter, Malin K; Dinopoulos, Argirios; Campbell, Arthur J; Lal, Dennis; Lederer, Damien; Liao, Vivian W Y; Ahring, Philip K; Møller, Rikke S; Gardella, Elena.

Genet Med; 24(3): 681-693, 2022 03.

Artículo en Inglés | MEDLINE | ID: mdl-34906499

3.

Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics.

Perry, Luke Daniel; Hogg, Sarah Louise; Bowdin, Sarah; Ambegaonkar, Gautam; Parker, Alasdair Pj.

Arch Dis Child Educ Pract Ed; 107(2): 80-87, 2022 04.

Artículo en Inglés | MEDLINE | ID: mdl-33414255

4.

Post-traumatic seizure with an unexpected finding.

Brittain, Christine; Ambegaonkar, Gautam.

Arch Dis Child Educ Pract Ed; 103(6): 302-303, 2018 12.

Artículo en Inglés | MEDLINE | ID: mdl-28939550

5.

Fifteen minute consultation: an approach to the child with chronic headaches.

Aspinall, Nichola; D'Urso, Anita; Ambegaonkar, Gautam.

Arch Dis Child Educ Pract Ed; 103(4): 177-183, 2018 08.

Artículo en Inglés | MEDLINE | ID: mdl-29222182

6.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon, Katherine; Spasic-Boskovic, Olivera; Brugger, Kim; Graves, Tracey D; Abbs, Stephen; Park, Soo-Mi; Ambegaonkar, Gautam; Armstrong, Ruth.

Neurogenetics; 18(1): 49-55, 2017 01.

Artículo en Inglés | MEDLINE | ID: mdl-28063088

7.

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

Papandreou, Apostolos; McTague, Amy; Trump, Natalie; Ambegaonkar, Gautam; Ngoh, Adeline; Meyer, Esther; Scott, Richard H; Kurian, Manju A.

Dev Med Child Neurol; 58(4): 416-20, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-26645412

8.

Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.

Cornell, Nikki; Childs, Anne-Marie; Wraige, Elizabeth; Munot, Pinki; Ambegaonkar, Gautam; Chow, Gabriel; Hughes, Imelda; Illingworth, Marjorie; Majumdar, Anirban; Marini-Bettolo, Chiara; Parasuraman, Deepak; Spinty, Stefan; Willis, Tracey; Scoto, Mariacristina; Baranello, Giovanni.

J Neuromuscul Dis; 11(2): 361-368, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38189761

9.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.

Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; Grimmel, Mona; Töpf, Ana; Zaharieva, Irina T; Brady, Lauren; Hu, Ying; Lloyd, Thomas E; Klein, Andrea; Steinlin, Maja; Kuster, Alice; Mercier, Sandra; Marcorelles, Pascale; Péréon, Yann; Fleurence, Emmanuelle; Manzur, Adnan; Ennis, Sarah; Upstill-Goddard, Rosanna; Bello, Luca; Bertolin, Cinzia; Pegoraro, Elena; Salviati, Leonardo; French, Courtney E; Shatillo, Andriy; Raymond, F Lucy; Haack, Tobias B; Quijano-Roy, Susana; Böhm, Johann; Nelson, Isabelle; Stojkovic, Tanya; Evangelista, Teresinha; Straub, Volker.

Nat Commun; 13(1): 2306, 2022 04 28.

Artículo en Inglés | MEDLINE | ID: mdl-35484142

10.

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Groeneweg, Stefan; Peeters, Robin P; Moran, Carla; Stoupa, Athanasia; Auriol, Françoise; Tonduti, Davide; Dica, Alice; Paone, Laura; Rozenkova, Klara; Malikova, Jana; van der Walt, Adri; de Coo, Irenaeus F M; McGowan, Anne; Lyons, Greta; Aarsen, Femke K; Barca, Diana; van Beynum, Ingrid M; van der Knoop, Marieke M; Jansen, Jurgen; Manshande, Martien; Lunsing, Roelineke J; Nowak, Stan; den Uil, Corstiaan A; Zillikens, M Carola; Visser, Frank E; Vrijmoeth, Paul; de Wit, Marie Claire Y; Wolf, Nicole I; Zandstra, Angelique; Ambegaonkar, Gautam; Singh, Yogen; de Rijke, Yolanda B; Medici, Marco; Bertini, Enrico S; Depoorter, Sylvia; Lebl, Jan; Cappa, Marco; De Meirleir, Linda; Krude, Heiko; Craiu, Dana; Zibordi, Federica; Oliver Petit, Isabelle; Polak, Michel; Chatterjee, Krishna; Visser, Theo J; Visser, W Edward.

Lancet Diabetes Endocrinol; 7(9): 695-706, 2019 09.

Artículo en Inglés | MEDLINE | ID: mdl-31377265

11.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.

McTague, Amy; Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V; Lascelles, Karine; Montgomery, Tara; Ramesh, Venkateswaran; Samanta, Rajib; Scott, Richard H; Tan, Jeen; Whitehouse, William; Poduri, Annapurna; Scheffer, Ingrid E; Chong, W K Kling; Cross, J Helen; Topf, Maya; Petrou, Steven; Kurian, Manju A.

Neurology; 90(1): e55-e66, 2018 01 02.

Artículo en Inglés | MEDLINE | ID: mdl-29196579

12.

Glycine receptor antibody-associated epilepsy in a boy aged 4âyears.

Ude, Chinwe; Ambegaonkar, Gautam.

BMJ Case Rep; 20162016 Oct 19.

Artículo en Inglés | MEDLINE | ID: mdl-27797796

13.

LOWER EXTREMITY HYPERMOBILITY, BUT NOT CORE MUSCLE ENDURANCE INFLUENCES BALANCE IN FEMALE COLLEGIATE DANCERS.

Ambegaonkar, Jatin P; Cortes, Nelson; Caswell, Shane V; Ambegaonkar, Gautam P; Wyon, Matthew.

Int J Sports Phys Ther; 11(2): 220-9, 2016 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-27104055

14.

Acute necrotising encephalopathy of childhood: an uncommon cause of childhood encephalopathy with recognisable clinical and radiological features and genetic predisposition.

Schindler, Nicholas; Ambegaonkar, Gautam.

Arch Dis Child; 102(3): 292-293, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-27831913

15.

The multiple phenotypes of arthrogryposis multiplex congenita with reference to the neurogenic variant.

Ambegaonkar, Gautam; Manzur, Adnan Y; Robb, Stephanie A; Kinali, Maria; Muntoni, Francesco.

Eur J Paediatr Neurol; 15(4): 316-9, 2011 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-21345701

16.

To pee or not to pee......

Ambegaonkar, Gautam; Mulik, Roopa.

Arch Dis Child; 92(10): 865, 2007 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-17895334

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