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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Abou Jamra, Rami ; Accogli, Andrea ; Amburgey, Kimberly ; Basinger, Alice A. ; Ceulemans, Sophia ; Charles, Perrine ; McRae, Jeremy F. ; Rajan, Diana ; Ambridge, Kirsty ; Jones, Philip ; Jones, Wendy D. ; Ahmed, Munaza ; Anjum, Uruj ; Armstrong, Ruth ; Barnicoat, Angela ; Bennett, Chris ; Blair, Edward ; Blyth, Moira ; Bourdon, Louise ; Brady, Angela ; Burn, John ; Canham, Natalie ; Cilliers, Deirdre ; Clayton-Smith, Jill ; Coates, Andrea ; Cooper, Nicola ; Dabir, Tabib ; Davies, Sally ; Dean, John ; Devlin, Gemma ; Donnai, Dian ; Donnelly, Carina ; Evans, Karenza ; Fendick, Tina ; Goodship, Judith ; Green, Andrew ; Harrison, Lucy ; Holden, Simon ; Jarvis, Joanna ; Johnson, Diana ; Jones, Elizabeth ; Kumar, V. K. Ajith ; Lachlan, Katherine ; Langman, Caroline ; Maye, Una ; McMullan, Dominic J. ; McWilliam, Catherine ; Metcalfe, Kay ; Norman, Andrew ; Ogilvie, Caroline ; Park, Soo-Mi ; Phipps, Julie ; Prescott, Katrina ; Procter, Annie ; Purnell, Hellen ; Ross, Alison ; Sampson, Julian ; Shannon, Nora ; Skitt, Zara ; Stewart, Fiona ; Stewart, Helen ; Swaminathan, Ganesh Jawahar ; Taylor, Cat ; Tein, Mark ; Treacy, Becky ; Vandersteen, Anthony ; Wallwark, Sarah ; Waters, Jonathon ; Weber, Astrid ; Whiteford, Margo ; Widaa, Sara ; Wilcox, Sarah ; Wilkinson, Emily ; Parker, Michael ; FitzPatrick, David R. ; Demurger, Florence ; Eiset, Saga Elise ; Ferrarini, Alessandra ; Haack, Tobias B. ; Hashim, Mona ; Jonasson, Amy R. ; Kok, Fernando ; Marcelis, Carlo L.M. ; McWalter, Kirsty ; Mercimek-Andrews, Saadet ; Person, Richard ; Ramelli, Gian Paolo ; Rauch, Anita ; Sanchez-Valle, Amarilis ; Sattar, Shifteh ; Saunders, Carol ; Steindl, Katharina ; Syrbe, Steffen ; Taylor, Jenny C. ; Trauner, Doris A. ; Vogel, Ida ; Widjaja, Elysa ; Zak, Jaroslav ; Banka, Siddharth ; Rodan, Lance H.

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

West, Hannah ; Carss, Keren ; Shakeel, Hassan ; Adlard, Julian ; Cole, Trevor ; Kwong, Ava ; Paterson, Joan ; Searle, Claire ; Skytte, Anne-Bine ; Aitman, Timothy ; Ambegaonkar, Gautum ; Antrobus, Richard ; Arno, Gavin ; Astle, William ; Attwood, Antony ; Austin, Steve ; Bakchoul, Tamam ; Bennett, David ; Bitner-Glindzicz, Maria ; Bleda, Marta ; Bolton-Maggs, Paula ; Booth, Claire ; Clements-Brod, Naomi ; Clowes, Virginia ; Collins, Peter ; Cookson, Victoria ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Dewhurst, Eleanor ; Doffinger, Rainer ; Drewe, Elizabeth ; Favier, Remi ; Firth, Helen ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gissen, Paul ; Gomez, Keith ; Graf, Stefan ; Gräf, Stefan ; Greenhalgh, Alan ; Hackett, Scott ; Haimel, Matthias ; Herwadkar, Archana ; Holder, Muriel ; Huissoon, Aarnoud ; James, Roger ; Kennedy, Fiona ; Kingston, Nathalie ; Kuijpers, Taco ; Lawrie, Allan ; Lentaigne, Claire ; Machado, Rajiv ; Maher, Eamonn ; Mangles, Sarah ; Manson, Ania ; Matser, Vera ; McDermott, Elizabeth ; Megy, Karyn ; Millar, Carolyn M. ; Morrell, Nicholas ; Ouwehand, Willem H. ; Papadia, Sofia ; Payne, Jeanette ; Peacock, Andrew ; Pollock, Val ; Quinti, Isabella ; Rayner-Matthews, Paula ; Rehnstrom, Karola ; Rhodes, Christopher J. ; Richardson, Sylvia ; Richter, Alex ; Rondina, Matthew ; Rosser, Elisabeth ; Rue-Albrecht, Kevin ; Sargur, Ravishankar ; Savic, Sinisa ; Schotte, Gwen ; Schulze, Harald ; Seneviratne, Suranjith ; Shamardina, Olga ; Simeoni, Ilenia ; Staines, Simon ; Stark, Hannah ; Stock, Sophie ; Thaventhiran, James ; Thompson, Dorothy ; Toh, Cheng-Hock ; Turek, Wojciech ; Wassmer, Evangeline ; Watt, Christopher ; Wharton, John ; Williamson, Catherine ; Woods, Geoff ; Wort, John ; Yeatman, Nigel ; Tischkowitz, Marc D. ; Maher, Eamonn R.

American journal of human genetics, 2018-07, Vol.103 (1), p.3-18 [Periódico revisado por pares]

United States: Elsevier Inc

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3
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Duarte, Sofia T. ; Charles, Perinne ; Pfundt, Rolph ; van Bokhoven, Hans ; van Ravenswaaij-Arts, Conny ; Morrell, Nicholas W. ; Thrasher, Adrian ; Fletcher, Debra ; Veltman, Marijke ; Davis, John ; Frary, Amy ; Martin, Jennifer M. ; Collins, Janine ; Favier, Remi ; Hart, Daniel ; Heemskerk, Johan W.M. ; Liesner, Ri ; Mangles, Sarah ; Roughley, Catherine ; Tait, R. Campbell ; Thachil, Jecko ; Van Geet, Chris ; De Vries, Minka ; Warner, Timothy Q. ; Furnell, Abigail ; Mapeta, Rutendo ; Whitehorn, Deborah ; Daugherty, Louise ; Deevi, Sri V.V. ; Hu, Fengyuan ; Matser, Vera ; Megy, Karyn ; Tuna, Salih ; von Ziegenweldt, Julie ; Haimel, Matthias ; Richardson, Sylvia ; Rankin, Stuart ; Anderson, Julie ; Stock, Sophie ; Armstrong, Ruth ; Bitner-Glindzicz, Maria ; Brady, Angie ; Clement, Emma ; Firth, Helen ; Flinter, Frances ; French, Courtney ; Holder, Muriel ; Hurst, Jane ; Josifova, Dragana ; Krishnakumar, Deepa ; Kurian, Manju A. ; Mehta, Sarju ; Moore, Anthony ; Rankin, Julia ; Reid, Evan ; Scott, Richard ; Thomas, Ellen ; Wassmer, Evangeline ; Creaser-Myers, Amanda ; Gall, Henning ; Ghataorhe, Pavandeep K. ; Houweling, Arjan C. ; in’t Veld, Anna Huis ; Ross, Rob V. Mackenzie ; Rhodes, Christopher J. ; Soubrier, Florent ; Treacy, Carmen M. ; Vonk Noordegraaf, Anton ; Antrobus, Richard ; Arumugakani, Gururaj ; Bibi, Shahnaz ; Devlin, Lisa ; Ghurye, Rohit ; Grigoriadou, Sofia ; Harper, Lorraine ; Herwadkar, Archana ; Jolles, Stephen ; Kumararatne, Dinakantha ; Lorenzo, Lorena ; Murng, Sai ; Nejentsev, Sergey ; Quinti, Isabella ; Samarghitean, Crina ; Savic, Sinisa ; Yong, Patrick ; Ancliff, Phil ; Layton, Mark ; Mead, Adam ; Roy, Noémi ; Chambers, Jenny ; Estiu, Cecelia ; Simpson, Michael ; Emmerson, Ingrid ; McCarthy, Mark ; Van Zuydam, Natalie ; Afzal, Maryam ; Colby, Elizabeth ; Boycott, Kym M. ; Majewski, Jacek ; Dyment, David

American journal of human genetics, 2018-07, Vol.103 (1), p.144-153 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Arno, Gavin ; Zihni, Ceniz ; Robson, Anthony G. ; Fiorentino, Alessia ; Black, Graeme ; Ponitkos, Nikos ; Holder, Graham E. ; Aitman, Timothy ; Alachkar, Hana ; Allsup, David ; Anderson, Julie ; Armstrong, Ruth ; Arumugakani, Gururaj ; Ashford, Sofie ; Bakchoul, Tamam ; Bariana, Tadbir K. ; Bibi, Shahnaz ; Bitner-Glindzicz, Maria ; Bolton-Maggs, Paula ; Brady, Angie ; Brown, Matthew ; Caulfield, Mark ; Chitre, Manali ; Clowes, Virginia ; Coghlan, Gerry ; Collins, Peter ; Creaser-Myers, Amanda ; DaCosta, Rosa ; Davies, Sophie ; Deegan, Patrick ; Deshpande, Charu ; Doffinger, Rainer ; Egner, William ; Erwood, Marie ; Favier, Remi ; Flinter, Frances ; Furie, Bruce ; Furnell, Abigail ; Gardham, Alice ; Gattens, Michael ; Ghataorhe, Pavandeep K. ; Gibbs, Simon ; Gilmour, Kimberley ; Gissen, Paul ; Goddard, Sarah ; Gordins, Pavel ; Greinacher, Andreas ; Grigoriadou, Sofia ; Hayman, Grant ; Henderson, Robert ; Henskens, Yvonne ; Holden, Simon ; Hu, Fengyuan ; Jolles, Stephen ; Josifova, Dragana ; Keeling, David ; Kelleher, Peter ; Kelly, Anne M. ; Kuijpers, Taco W. ; Kumararatne, Dinakantha ; Kurian, Manju ; Laffan, Michael A. ; Linger, Rachel ; Machado, Rajiv ; Manson, Ania ; Markus, Hugh S. ; Meehan, Sharon ; Ouwehand, Willem H. ; Park, Soo-Mi ; Parker, Alasdair ; Paterson, Joan ; Peerlinck, Kathelijne ; Perry, David J. ; Qasim, Waseem ; Rankin, Julia ; Rehnstrom, Karola ; Roberts, Irene ; Roughley, Catherine ; Rue-Albrecht, Kevin ; Schulze, Harald ; Shamardina, Olga ; Shipley, Debbie ; Simeoni, Ilenia ; Stephens, Jonathan ; Suntharalingam, Jay ; Thachil, Jecko ; Thaventhiran, James ; Thomas, Ellen ; Titterton, Catherine ; Toh, Cheng-Hock ; Turek, Wojciech ; Turro, Ernest ; Van Geet, Chris ; Wakeling, Emma ; Warner, Timothy Q. ; Webster, Andrew ; Wilkins, Martin ; Young, Tim ; Yu, Ping ; Webster, Andrew R.

American journal of human genetics, 2017-02, Vol.100 (2), p.334-342 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
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Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Nixon, Thomas R W ; Richards, Allan ; Towns, Laura K ; Fuller, Gavin ; Abbs, Stephen ; Alexander, Philip ; McNinch, Annie ; Sandford, Richard N ; Snead, Martin P

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.369-377 [Periódico revisado por pares]

England: Nature Publishing Group

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6
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)
Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)
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Multiple postnatal craniofacial anomalies are characterized by conditional loss of polycystic kidney disease 2 (Pkd2)

Khonsari, Roman H ; Ohazama, Atsushi ; Raouf, Ramin ; Kawasaki, Maiko ; Kawasaki, Katsushige ; Porntaveetus, Thantrira ; Ghafoor, Sarah ; Hammond, Peter ; Suttie, Michael ; Odri, Guillaume A ; Sandford, Richard N ; Wood, John N ; Sharpe, Paul T

Human molecular genetics, 2013-05, Vol.22 (9), p.1873-1885 [Periódico revisado por pares]

England

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7
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease
Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease
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Investigation and Management of Apparently Sporadic Central Nervous System Haemangioblastoma for Evidence of Von Hippel-Lindau Disease

Furness, Hugh ; Salfity, Louay ; Devereux, Johanna ; Halliday, Dorothy ; Hanson, Helen ; Ruddy, Deborah M ; Uk Vhl Study Group ; Shah, Neha ; Sultana, George ; Woodward, Emma R ; Sandford, Richard N ; Snape, Katie M ; Maher, Eamonn R

Genes, 2021-09, Vol.12 (9), p.1414 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Effect of heme oxygenase-1 polymorphisms on lung function and gene expression
Effect of heme oxygenase-1 polymorphisms on lung function and gene expression
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Effect of heme oxygenase-1 polymorphisms on lung function and gene expression

Tanaka, Goh ; Aminuddin, Farzian ; Akhabir, Loubna ; He, Jian-Qing ; Shumansky, Karey ; Connett, John E ; Anthonisen, Nicholas R ; Abboud, Raja T ; Paré, Peter D ; Sandford, Andrew J

BMC medical genetics, 2011-09, Vol.12 (1), p.117-117, Article 117 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia
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High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia

Nik-Zainal, Serena ; Strick, Reiner ; Storer, Mekayla ; Huang, Ni ; Rad, Roland ; Willatt, Lionel ; Fitzgerald, Tomas ; Martin, Vicki ; Sandford, Richard ; Carter, Nigel P ; Janecke, Andreas R ; Renner, Stefan P ; Oppelt, Patricia G ; Oppelt, Peter ; Schulze, Christine ; Brucker, Sara ; Hurles, Matthew ; Beckmann, Matthias W ; Strissel, Pamela L ; Shaw-Smith, Charles

Journal of medical genetics, 2011-03, Vol.48 (3), p.197-204 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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10
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection
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Cystic fibrosis modifier genes related to Pseudomonas aeruginosa infection

Park, J E ; Yung, R ; Stefanowicz, D ; Shumansky, K ; Akhabir, L ; Durie, P R ; Corey, M ; Zielenski, J ; Dorfman, R ; Daley, D ; Sandford, A J

Genes and immunity, 2011-07, Vol.12 (5), p.370-377 [Periódico revisado por pares]

England: Nature Publishing Group

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