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Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach
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Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach

Kock, Leanne ; Cuillerier, Alexanne ; Gillespie, Meredith ; Couse, Madeline ; Hartley, Taila ; Mears, Wendy ; Bernier, Francois P. ; Chudley, Albert E. ; Frosk, Patrick ; Nikkel, Sarah M. ; Innes, A. Micheil ; Lauzon, Julie ; Thomas, Maryann ; Guerin, Andrea ; Armour, Christine M. ; Weksberg, Rosanna ; Scott, James N. ; Watkins, Debra ; Harvey, Shirley ; Cytrynbaum, Cheryl ; Kernohan, Kristin D. ; Boycott, Kym M.

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63466-n/a [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

Vanderver, Adeline ; Tonduti, Davide ; Kahn, Ilana ; Schmidt, Johanna ; Medne, Livija ; Vento, Jodie ; Chapman, Kimberly A. ; Lanpher, Brendan ; Pearl, Phillip ; Gropman, Andrea ; Lourenco, Charles ; Bamforth, John-Steven ; Sharpe, Cynthia ; Pineda, Mercédes ; Schallner, Jens ; Bodamer, Olaf ; Orcesi, Simona ; Oberstein, Saskia A. J. Lesnik ; Sistermans, Erik A. ; Yntema, Helger G. ; Bonnemann, Carsten ; Waldman, Amy T. ; van der Knaap, Marjo S.

American journal of medical genetics. Part A, 2014-03, Vol.164A (3), p.627-633 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)
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Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA)

Vissers, Lisenka E.L.M. ; Fano, Virginia ; Martinelli, Diego ; Campos-Xavier, Belinda ; Barbuti, Domenico ; Cho, Tae-Joon ; Dursun, Ahmet ; Kim, Ok Hwa ; Lee, Sun Hee ; Timpani, Giuseppina ; Nishimura, Gen ; Unger, Sheila ; Sass, Jörn Oliver ; Veltman, Joris A. ; Brunner, Han G. ; Bonafé, Luisa ; Dionisi-Vici, Carlo ; Superti-Furga, Andrea

American journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2609-2616 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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