Search | VHL CLAP/WR-PAHO/WHO

1.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T.

Am J Hum Genet ; 108(9): 1692-1709, 2021 09 02.

Article in English | MEDLINE | ID: mdl-34375587

2.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Faundes, Víctor; Goh, Stephanie; Akilapa, Rhoda; Bezuidenhout, Heidre; Bjornsson, Hans T; Bradley, Lisa; Brady, Angela F; Brischoux-Boucher, Elise; Brunner, Han; Bulk, Saskia; Canham, Natalie; Cody, Declan; Dentici, Maria Lisa; Digilio, Maria Cristina; Elmslie, Frances; Fry, Andrew E; Gill, Harinder; Hurst, Jane; Johnson, Diana; Julia, Sophie; Lachlan, Katherine; Lebel, Robert Roger; Byler, Melissa; Gershon, Eric; Lemire, Edmond; Gnazzo, Maria; Lepri, Francesca Romana; Marchese, Antonia; McEntagart, Meriel; McGaughran, Julie; Mizuno, Seiji; Okamoto, Nobuhiko; Rieubland, Claudine; Rodgers, Jonathan; Sasaki, Erina; Scalais, Emmanuel; Scurr, Ingrid; Suri, Mohnish; van der Burgt, Ineke; Matsumoto, Naomichi; Miyake, Noriko; Benoit, Valérie; Lederer, Damien; Banka, Siddharth.

Genet Med ; 23(7): 1202-1210, 2021 07.

Article in English | MEDLINE | ID: mdl-33674768

3.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

Jacobs, Eva Z; Brown, Kathleen; Byler, Melissa C; D'haenens, Erika; Dheedene, Annelies; Henderson, Lindsay B; Humberson, Jennifer B; van Jaarsveld, Richard H; Kanani, Farah; Lebel, Robert Roger; Millan, Francisca; Oegema, Renske; Oostra, Ann; Parker, Michael J; Rhodes, Lindsay; Saenz, Margarita; Seaver, Laurie H; Si, Yue; Vanlander, Arnaud; Vergult, Sarah; Callewaert, Bert.

Clin Genet ; 99(2): 259-268, 2021 02.

Article in English | MEDLINE | ID: mdl-33131045

4.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan, Fadi F; Myers, Candace T; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T; Rosenfeld, Jill A; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E; Thomas, Rhys H; Shelagh, Joss; Hurst, Jane A; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K; Dorison, Sara J; Benke, Paul J; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T; Bruel, Ange-Line; Verloes, Alain; Õunap, Katrin; Wojcik, Monica H.

Am J Hum Genet ; 101(5): 664-685, 2017 Nov 02.

Article in English | MEDLINE | ID: mdl-29100083

5.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Stolz, Jacob R; Foote, Kendall M; Veenstra-Knol, Hermine E; Pfundt, Rolph; Ten Broeke, Sanne W; de Leeuw, Nicole; Roht, Laura; Pajusalu, Sander; Part, Reelika; Rebane, Ionella; Õunap, Katrin; Stark, Zornitza; Kirk, Edwin P; Lawson, John A; Lunke, Sebastian; Christodoulou, John; Louie, Raymond J; Rogers, R Curtis; Davis, Jessica M; Innes, A Micheil; Wei, Xing-Chang; Keren, Boris; Mignot, Cyril; Lebel, Robert Roger; Sperber, Steven M; Sakonju, Ai; Dosa, Nienke; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Ruivenkamp, Claudia A L; van Bon, Bregje W; Kennedy, Joanna; Low, Karen J; Ellard, Sian; Pang, Lewis; Junewick, Joseph J; Mark, Paul R; Carvill, Gemma L; Swanson, Geoffrey T.

Am J Hum Genet ; 108(11): 2206, 2021 Nov 04.

Article in English | MEDLINE | ID: mdl-34739836

6.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

Gilman, Jordana L; Newman, Heather A; Freeman, Rebecca; Singh, Kathryn E; Puckett, Rebecca L; Morohashi, David K; Stein, Constance; Palomino, Kathryn; Lebel, Robert Roger; Kimonis, Virginia E.

Am J Med Genet A ; 173(6): 1663-1667, 2017 Jun.

Article in English | MEDLINE | ID: mdl-28256045

7.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Lebel, Robert Roger; Henderson, Alex; Schaaf, Christian P; Streff, Haley E; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Le Caignec, Cédric; Cogné, Benjamin; Mercier, Sandra; Vincent, Marie; Colin, Estelle; Bonneau, Dominique; Denommé, Anne-Sophie; Parent, Philippe; Gilbert-Dussardier, Brigitte; Odent, Sylvie; Toutain, Annick; Piton, Amélie; Dina, Christian; Donnart, Audrey; Lindenbaum, Pierre; Charpentier, Eric; Redon, Richard; Iemura, Kenji; Ikeda, Masanori; Tanaka, Kozo; Bézieau, Stéphane.

Hum Mutat ; 37(4): 354-8, 2016 Apr.

Article in English | MEDLINE | ID: mdl-26751395

8.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

Ziats, Mark N; Goin-Kochel, Robin P; Berry, Leandra N; Ali, May; Ge, Jun; Guffey, Danielle; Rosenfeld, Jill A; Bader, Patricia; Gambello, Michael J; Wolf, Varina; Penney, Lynette S; Miller, Ryan; Lebel, Robert Roger; Kane, Jeffrey; Bachman, Kristine; Troxell, Robin; Clark, Gary; Minard, Charles G; Stankiewicz, Pawel; Beaudet, Arthur; Schaaf, Christian P.

Genet Med ; 18(11): 1111-1118, 2016 11.

Article in English | MEDLINE | ID: mdl-26963284

9.

Gastrointestinal manifestations in diploid/triploid mixoploidy.

Lalani, Farida K; Elsner, Garrett L; Lebel, Robert Roger; Beg, Mirza B.

J Pediatr Gastroenterol Nutr ; 60(6): 799-801, 2015 Jun.

Article in English | MEDLINE | ID: mdl-25373857

10.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Werren, Elizabeth A; LaForce, Geneva R; Srivastava, Anshika; Perillo, Delia R; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L; Pfennig, Christian D; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raúl; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E J; Louie, Raymond J; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T; Boztug, Kaan; Girisha, Katta M; Shukla, Anju; Bielas, Stephanie L; Schaffer, Ashleigh E.

Nat Commun ; 15(1): 1640, 2024 Feb 22.

Article in English | MEDLINE | ID: mdl-38388531

11.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica.

J Clin Invest ; 134(1)2024 Jan 02.

Article in English | MEDLINE | ID: mdl-37962958

12.

50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.

Lebel, Robert Roger.

J Pediatr ; 192: 129, 2018 01.

Article in English | MEDLINE | ID: mdl-29246333

13.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Cousin, Margot A; Veale, Emma L; Dsouza, Nikita R; Tripathi, Swarnendu; Holden, Robyn G; Arelin, Maria; Beek, Geoffrey; Bekheirnia, Mir Reza; Beygo, Jasmin; Bhambhani, Vikas; Bialer, Martin; Bigoni, Stefania; Boelman, Cyrus; Carmichael, Jenny; Courtin, Thomas; Cogne, Benjamin; Dabaj, Ivana; Doummar, Diane; Fazilleau, Laura; Ferlini, Alessandra; Gavrilova, Ralitza H; Graham, John M; Haack, Tobias B; Juusola, Jane; Kant, Sarina G; Kayani, Saima; Keren, Boris; Ketteler, Petra; Klöckner, Chiara; Koopmann, Tamara T; Kruisselbrink, Teresa M; Kuechler, Alma; Lambert, Laëtitia; Latypova, Xénia; Lebel, Robert Roger; Leduc, Magalie S; Leonardi, Emanuela; Lewis, Andrea M; Liew, Wendy; Machol, Keren; Mardini, Samir; McWalter, Kirsty; Mignot, Cyril; McLaughlin, Julie; Murgia, Alessandra; Narayanan, Vinodh; Nava, Caroline; Neuser, Sonja; Nizon, Mathilde; Ognibene, Davide.

Genome Med ; 14(1): 62, 2022 06 13.

Article in English | MEDLINE | ID: mdl-35698242

14.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Burkardt, Deepika D'Cunha; Rosenfeld, Jill A; Helgeson, Maria L; Angle, Brad; Banks, Valerie; Smith, Wendy E; Gripp, Karen W; Moline, Jessica; Moran, Rocio T; Niyazov, Dmitriy M; Stevens, Cathy A; Zackai, Elaine; Lebel, Robert Roger; Ashley, Douglas G; Kramer, Nancy; Lachman, Ralph S; Graham, John M.

Am J Med Genet A ; 155A(6): 1336-51, 2011 Jun.

Article in English | MEDLINE | ID: mdl-21548129

15.

Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy.

Lebel, Robert Roger; Avery, Jennifer M; Broome, Patti J; Collins, Julianne S.

Fetal Pediatr Pathol ; 28(6): 253-61, 2009.

Article in English | MEDLINE | ID: mdl-19842880

16.

Fetal peritonitis due to appendiceal rupture: a rare complication of hydrops.

Lebel, Robert Roger; Avery, Jennifer M; Broome, Patti J; Gregg, Anthony R; Alan, Carol; Mostafa, Mahmoud.

Fetal Pediatr Pathol ; 27(3): 121-5, 2008.

Article in English | MEDLINE | ID: mdl-18633765

17.

Quantitative standards for fetal and neonatal autopsy.

Archie, John G; Collins, Julianne S; Lebel, Robert Roger.

Am J Clin Pathol ; 126(2): 256-65, 2006 Aug.

Article in English | MEDLINE | ID: mdl-16891202

18.

That personal touch.

Lebel, Robert Roger.

Hastings Cent Rep ; 41(3): 6-7, 2011.

Article in English | MEDLINE | ID: mdl-21678802

19.

Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.

Rim, Joshua; Byler, Melissa; Soldatos, Ariane; Notarangelo, Luigi; Leibovitch, Emily; Jacobson, Steven; Gorman, Mark; Lebel, Robert Roger; Werner, Klaus.

Neurology ; 96(6): e956-e959, 2021 02 09.

Article in English | MEDLINE | ID: mdl-33168705

20.

A novel intermediate mucolipidosis II/IIIαß caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy, Jules G; Sillence, David; Wood, Tim; Barnes, Jarrod; Lebel, Robert Roger; Friez, Michael J; Stevenson, Roger E; Steet, Richard; Cathey, Sara S.

Eur J Hum Genet ; 22(5): 594-601, 2014 May.

Article in English | MEDLINE | ID: mdl-24045841

VHL CLAP/WR-PAHO/WHO

Latin-American Center for Perinatology, Woman and Reproductive Health

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Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

Gastrointestinal manifestations in diploid/triploid mixoploidy.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

50 Years Ago in The Journal of Pediatrics: A Familial Syndrome of Renal, Genital, and Middle Ear Anomalies.

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.

Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy.

Fetal peritonitis due to appendiceal rupture: a rare complication of hydrops.

Quantitative standards for fetal and neonatal autopsy.

That personal touch.

Opinion and Special Articles: Cerebellar Ataxia and Liver Failure Complicating IPEX Syndrome.

A novel intermediate mucolipidosis II/IIIαß caused by GNPTAB mutation in the cytosolic N-terminal domain.