Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

par Almeqdadi, Mohammad, Kemppainen, Jennifer L., Pichurin, Pavel N., Gavrilova, Ralitza H.
Publié dans Am J Case Rep (2018)

The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim

par Chen, Chun-Rong, Pichurin, Pavel, Nagayama, Yuji, Latrofa, Francesco, Rapoport, Basil, McLachlan, Sandra M.
Publié 2003

Cushing syndrome: uncovering Carney complex due to novel PRKAR1A mutation

par Zhang, Catherine D, Pichurin, Pavel N, Bobr, Aleh, Lyden, Melanie L, Young, William F, Bancos, Irina
Publié dans Endocrinol Diabetes Metab Case Rep (2019)

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation

par Conboy, Erin, Vairo, Filippo, Waggoner, Darrel, Ober, Carole, Das, Soma, Dhamija, Radhika, Klee, Eric W., Pichurin, Pavel
Publié dans Case Rep Genet (2017)

Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature

par Kaur, Ravinder Jeet, Pichurin, Pavel N, Hines, Jolaine M, Singh, Ravinder J, Grebe, Stefan K, Bancos, Irina
Publié dans J Endocr Soc (2019)

Shared and Unique Susceptibility Genes in a Mouse Model of Graves’ Disease Determined in BXH and CXB Recombinant Inbred Mice

par McLachlan, Sandra M., Aliesky, Holly A., Pichurin, Pavel N., Chen, Chun-Rong, Williams, Robert W., Rapoport, Basil
Publié 2008

Thyroid-stimulating autoantibodies in Graves disease preferentially recognize the free A subunit, not the thyrotropin holoreceptor

par Chazenbalk, Gregorio D., Pichurin, Pavel, Chen, Chun-Rong, Latrofa, Francesco, Johnstone, Alan P., McLachlan, Sandra M., Rapoport, Basil
Publié 2002

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

par Pinto e Vairo, Filippo, Pichurin, Pavel N., Fervenza, Fernando C., Nasr, Samih H., Mills, Kevin, Schmitz, Christopher T., Klee, Eric W., Herrmann, Sandra M.
Publié dans BMC Nephrol (2020)

Pregnancy in an Individual with Mild Smith-Lemli-Opitz Syndrome

par Ellingson, Marissa S., Wick, Myra J., White, Wendy M., Raymond, Kimiyo M., Saenger, Amy K., Pichurin, Pavel N., Wassif, Christopher A., Porter, Forbes D., Babovic-Vuksanovic, Dusica
Publié 2013

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

par Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.
Publié dans Mol Genet Genomic Med (2020)

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypic...

par Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul A., Lomberk, Gwen A., Kruisselbrink, Teresa, Cousin, Margot A., Boczek, Nicole J., Hoppman, Nicole L., Babovic-Vuksanovic, Dusica, Klee, Eric W., Pichurin, Pavel N.
Publié dans Cold Spring Harb Mol Case Stud (2018)

Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessme...

par Blackburn, Patrick R., Barnett, Sarah S., Zimmermann, Michael T., Cousin, Margot A., Kaiwar, Charu, Pinto e Vairo, Filippo, Niu, Zhiyv, Ferber, Matthew J., Urrutia, Raul A., Selcen, Duygu, Klee, Eric W., Pichurin, Pavel N.
Publié dans Cold Spring Harb Mol Case Stud (2017)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

par Vairo, Filippo Pinto, Boczek, Nicole J., Cousin, Margot A., Kaiwar, Charu, Blackburn, Patrick R., Conboy, Erin, Lanpher, Brendan C., Gavrilova, Ralitza H., Pichurin, Pavel N., Lazaridis, Konstantinos N., Babovic-Vuksanovic, Dusica, Klee, Eric W.
Publié dans Mol Genet Metab Rep (2017)

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

par Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Publié dans JIMD Rep (2021)

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

par Boczek, Nicole J., Hopp, Katharina, Benoit, Lacey, Kraft, Daniel, Cousin, Margot A., Blackburn, Patrick R., Madsen, Charles D., Oliver, Gavin R., Nair, Asha A., Na, Jie, Bianchi, Diana W., Beek, Geoffrey, Harris, Peter C., Pichurin, Pavel, Klee, Eric W.
Publié dans Eur J Hum Genet (2018)

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

par Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
Publié dans Hepatology (2020)

PMS2 monoallelic mutation carriers: the known unknown

par Goodenberger, McKinsey L., Thomas, Brittany C., Riegert-Johnson, Douglas, Boland, C. Richard, Plon, Sharon E., Clendenning, Mark, Ko Win, Aung, Senter, Leigha, Lipkin, Steven M., Stadler, Zsofia K., Macrae, Finlay A., Lynch, Henry T., Weitzel, Jeffrey N., de la Chapelle, Albert, Syngal, Sapna, Lynch, Patrick, Parry, Susan, Jenkins, Mark A., Gallinger, Steven, Holter, Spring, Aronson, Melyssa, Newcomb, Polly A., Burnett, Terrilea, Le Marchand, Loïc, Pichurin, Pavel, Hampel, Heather, Terdiman, Jonathan P., Lu, Karen H., Thibodeau, Stephen, Lindor, Noralane M.
Publié dans Genet Med (2015)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

par Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publié dans Eur J Hum Genet (2020)

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

par Li, Jun, Woods, Susan L., Healey, Sue, Beesley, Jonathan, Chen, Xiaoqing, Lee, Jason S., Sivakumaran, Haran, Wayte, Nicci, Nones, Katia, Waterfall, Joshua J., Pearson, John, Patch, Anne-Marie, Senz, Janine, Ferreira, Manuel A., Kaurah, Pardeep, Mackenzie, Robertson, Heravi-Moussavi, Alireza, Hansford, Samantha, Lannagan, Tamsin R.M., Spurdle, Amanda B., Simpson, Peter T., da Silva, Leonard, Lakhani, Sunil R., Clouston, Andrew D., Bettington, Mark, Grimpen, Florian, Busuttil, Rita A., Di Costanzo, Natasha, Boussioutas, Alex, Jeanjean, Marie, Chong, George, Fabre, Aurélie, Olschwang, Sylviane, Faulkner, Geoffrey J., Bellos, Evangelos, Coin, Lachlan, Rioux, Kevin, Bathe, Oliver F., Wen, Xiaogang, Martin, Hilary C., Neklason, Deborah W., Davis, Sean R., Walker, Robert L., Calzone, Kathleen A., Avital, Itzhak, Heller, Theo, Koh, Christopher, Pineda, Marbin, Rudloff, Udo, Quezado, Martha, Pichurin, Pavel N., Hulick, Peter J., Weissman, Scott M., Newlin, Anna, Rubinstein, Wendy S., Sampson, Jone E., Hamman, Kelly, Goldgar, David, Poplawski, Nicola, Phillips, Kerry, Schofield, Lyn, Armstrong, Jacqueline, Kiraly-Borri, Cathy, Suthers, Graeme K., Huntsman, David G., Foulkes, William D., Carneiro, Fatima, Lindor, Noralane M., Edwards, Stacey L., French, Juliet D., Waddell, Nicola, Meltzer, Paul S., Worthley, Daniel L., Schrader, Kasmintan A., Chenevix-Trench, Georgia
Publié dans Am J Hum Genet (2016)

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

par Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Rodriguez, Liset Falcon, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.
Publié dans Nat Genet (2021)