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Items: 1 to 20 of 40

1.
Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome
Muhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, Emrah Kaygusuz, Mohammad Reza Toliat, Shin-ichi Sakakibara, Janine Altmüller, Holger Thiele, Gudrun Nürnberg, Shahida Moosa, Gökhan Yigit, Filippo Beleggia, Sigrid Tinschert, Jill Clayton-Smith, Pradeep Vasudevan, Jill E. Urquhart, Dian Donnai, Alan Fryer, Ferda Percin, Francesco Brancati, Angus Dobbie, Robert Śmigiel, Gabriele Gillessen-Kaesbach, Bernd Wollnik, Angelika Anna Noegel, William G. Newman, Peter Nürnberg
Am J Hum Genet. 2014 Nov 6; 95(5): 622–632. doi: 10.1016/j.ajhg.2014.10.008
PMCID:
PMC4225581
AbstractArticlePDF–2.3M
2.
Mcph1, mutated in primary microcephaly, is also crucial for erythropoiesis
Yoann Vial, Jeannette Nardelli, Adeline A Bonnard, Justine Rousselot, Michèle Souyri, Pierre Gressens, Hélène Cavé, Séverine Drunat
EMBO Rep. 2024 May; 25(5): 2418–2440. Published online 2024 Apr 11. doi: 10.1038/s44319-024-00123-8
PMCID:
PMC11094029
AbstractArticlePDF–10M
3.
Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice
Matthew C. Judson, Alain C. Burette, Courtney L. Thaxton, Alaine L. Pribisko, Mark D. Shen, Ashley M. Rumple, Wilmer A. Del Cid, Beatriz Paniagua, Martin Styner, Richard J. Weinberg, Benjamin D. Philpot
J Neurosci. 2017 Aug 2; 37(31): 7347–7361. doi: 10.1523/JNEUROSCI.0037-17.2017
PMCID:
PMC5546107
AbstractArticlePDF–5.1M
4.
Amino acid synthesis deficiencies
T. J. de Koning
J Inherit Metab Dis. 2017; 40(4): 609–620. Published online 2017 Jun 26. doi: 10.1007/s10545-017-0063-1
PMCID:
PMC5500668
AbstractArticlePDF–475K
5.
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity
Bodo B. Beck, FrancJan van Spronsen, Arjan Diepstra, Rolf M. F. Berger, Martin Kömhoff
Pediatr Nephrol. 2017; 32(5): 733–741. Published online 2016 Jun 11. doi: 10.1007/s00467-016-3399-0
PMCID:
PMC5368212
AbstractArticlePDF–672K
6.
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition
Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek
Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165
PMCID:
PMC5255962
AbstractArticlePDF–650K
7.
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
Salima El Chehadeh, Wilhelmina S Kerstjens-Frederikse, Julien Thevenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean-Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot-Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, Frank Kooy, Miroslava Hančárová, Marketa Havlovicová, Darina Prchalová, Zdenek Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S Klein Wassink-Ruiter, Laurence Faivre
Eur J Hum Genet. 2017 Jan; 25(1): 43–51. Published online 2016 Nov 2. doi: 10.1038/ejhg.2016.133
PMCID:
PMC5159768
AbstractArticlePDF–1.1M
8.
A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report
Anna Winczewska-Wiktor, Magdalena Badura-Stronka, Anna Monies-Nowicka, Michal Maciej Nowicki, Barbara Steinborn, Anna Latos-Bieleńska, Dorota Monies
BMC Neurol. 2016; 16: 35. Published online 2016 Mar 12. doi: 10.1186/s12883-016-0554-y
PMCID:
PMC4788907
AbstractArticlePDF–1.0M
9.
Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Beate Albrecht, Judith Allanson, Han Brunner, Debora Bertola, Nicolas Chassaing, Albert David, Koen Devriendt, Pirayeh Eftekhari, Valérie Drouin-Garraud, Francesca Faravelli, Laurence Faivre, Fabienne Giuliano, Leina Guion Almeida, Jorge Juncos, Marlies Kempers, Hatice Koçak Eker, Didier Lacombe, Angela Lin, Grazia Mancini, Daniela Melis, Charles Marques Lourenço, Victoria Mok Siu, Gilles Morin, Marjan Nezarati, Malgorzata J M Nowaczyk, Jeanette C Ramer, Sara Osimani, Nicole Philip, Mary Ella Pierpont, Vincent Procaccio, Zeichi-Seide Roseli, Massimiliano Rossi, Cristina Rusu, Yves Sznajer, Ludivine Templin, Vera Uliana, Mirjam Klaus, Bregje Van Bon, Conny Van Ravenswaaij, Bruce Wainer, Andrew E Fry, Andreas Rump, Alexander Hoischen, Séverine Drunat, Jean-Baptiste Rivière, William B Dobyns, Daniela T Pilz
Eur J Hum Genet. 2015 Mar; 23(3): 292–301. Published online 2014 Jul 23. doi: 10.1038/ejhg.2014.95
PMCID:
PMC4326722
AbstractArticlePDF–2.0M
10.
Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth
Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke
J Biol Chem. 2015 Feb 6; 290(6): 3349–3358. Published online 2014 Dec 9. doi: 10.1074/jbc.M114.608174
PMCID:
PMC4319006
AbstractArticlePDF–2.8M
11.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
Clare V. Logan, Jennie E. Murray, David A. Parry, Andrea Robertson, Roberto Bellelli, Žygimantė Tarnauskaitė, Rachel Challis, Louise Cleal, Valerie Borel, Adeline Fluteau, Javier Santoyo-Lopez, SGP Consortium, Tim Aitman, Inês Barroso, Donald Basel, Louise S. Bicknell, Himanshu Goel, Hao Hu, Chad Huff, Michele Hutchison, Caroline Joyce, Rachel Knox, Amy E. Lacroix, Sylvie Langlois, Shawn McCandless, Julie McCarrier, Kay A. Metcalfe, Rose Morrissey, Nuala Murphy, Irène Netchine, Susan M. O’Connell, Ann Haskins Olney, Nandina Paria, Jill A. Rosenfeld, Mark Sherlock, Erin Syverson, Perrin C. White, Carol Wise, Yao Yu, Margaret Zacharin, Indraneel Banerjee, Martin Reijns, Michael B. Bober, Robert K. Semple, Simon J. Boulton, Jonathan J. Rios, Andrew P. Jackson
Am J Hum Genet. 2018 Dec 6; 103(6): 1038–1044. Published online 2018 Nov 29. doi: 10.1016/j.ajhg.2018.10.024
PMCID:
PMC6288413
AbstractArticlePDF–1.0M
12.
Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome
Rebecca E. McIntyre, Pavithra Lakshminarasimhan Chavali, Ozama Ismail, Damian M. Carragher, Gabriela Sanchez-Andrade, Josep V. Forment, Beiyuan Fu, Martin Del Castillo Velasco-Herrera, Andrew Edwards, Louise van der Weyden, Fengtang Yang, Sanger Mouse Genetics Project, Ramiro Ramirez-Solis, Jeanne Estabel, Ferdia A. Gallagher, Darren W. Logan, Mark J. Arends, Stephen H. Tsang, Vinit B. Mahajan, Cheryl L. Scudamore, Jacqueline K. White, Stephen P. Jackson, Fanni Gergely, David J. Adams
PLoS Genet. 2012 Nov; 8(11): e1003022. Published online 2012 Nov 15. doi: 10.1371/journal.pgen.1003022
PMCID:
PMC3499256
AbstractArticlePDF–1.6M
13.
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype
Bregje WM van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Francesca Novara, Tiziano Pramparo, Bernardo Dalla Bernardina, Leonardo Zoccante, Umberto Balottin, Fausta Piazza, Vanna Pecile, Paolo Gasparini, Veronica Guerci, Marleen Kets, Rolph Pfundt, Arjan P de Brouwer, Joris A Veltman, Nicole de Leeuw, Meredith Wilson, Jayne Antony, Santina Reitano, Daniela Luciano, Marco Fichera, Corrado Romano, Han G Brunner, Orsetta Zuffardi, Bert BA de Vries
Eur J Hum Genet. 2010 Feb; 18(2): 163–170. Published online 2009 Oct 7. doi: 10.1038/ejhg.2009.152
Correction in:
Eur J Hum Genet. 2010 Oct; 18(10): 1171.
Correction in:
Eur J Hum Genet. 2010 Feb; 18(2): 170.
PMCID:
PMC2987180
AbstractArticlePDF–628K
14.
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation
Arijit Mukhopadhyay, Jamie M. Kramer, Gerard Merkx, Dorien Lugtenberg, Dominique F. Smeets, Merel A. W. Oortveld, Ellen A. W. Blokland, Jyoti Agrawal, Annette Schenck, Hans van Bokhoven, Erik Huys, Eric F. Schoenmakers, Ad Geurts van Kessel, C. Erik van Nouhuys, Frans P. M. Cremers
Hum Genet. 2010; 128(3): 281–291. Published online 2010 Jun 22. doi: 10.1007/s00439-010-0848-x
PMCID:
PMC2921488
AbstractArticlePDF–537K
15.
Impaired Replication Stress Response in Cells from Immunodeficiency Patients Carrying Cernunnos/XLF Mutations
Michal Schwartz, Yifat S. Oren, Assaf C. Bester, Ayelet Rahat, Ruthy Sfez, Shlomo Yitzchaik, Jean-Pierre de Villartay, Batsheva Kerem
PLoS One. 2009; 4(2): e4516. Published online 2009 Feb 18. doi: 10.1371/journal.pone.0004516
PMCID:
PMC2637976
AbstractArticlePDF–1.1M
16.
Nijmegen breakage syndrome
I The
Arch Dis Child. 2000 May; 82(5): 400–406. doi: 10.1136/adc.82.5.400
PMCID:
PMC1718318
SummaryPDF–189K
17.
Filippi syndrome: a new case with skeletal abnormalities.
D Héron, T Billette de Villemeur, A Munnich, S Lyonnet
J Med Genet. 1995 Aug; 32(8): 659–661. doi: 10.1136/jmg.32.8.659
PMCID:
PMC1051647
SummaryPage BrowsePDF–1.1M
18.
Monosomy 8p: an easily overlooked syndrome.
A H Bröcker-Vriends, P D Mooij, F van Bel, G C Beverstock, J J van de Kamp
J Med Genet. 1986 Apr; 23(2): 153–154. doi: 10.1136/jmg.23.2.153
PMCID:
PMC1049570
SummaryPage BrowsePDF–310K
19.
Down syndrome phenotypes: the consequences of chromosomal imbalance.
J R Korenberg, X N Chen, R Schipper, Z Sun, R Gonsky, S Gerwehr, N Carpenter, C Daumer, P Dignan, C Disteche, et al.
Proc Natl Acad Sci U S A. 1994 May 24; 91(11): 4997–5001. doi: 10.1073/pnas.91.11.4997
Correction in:
Proc Natl Acad Sci U S A. 1994 Nov 8; 91(23): 11281.
PMCID:
PMC43917
SummaryPage BrowsePDF–1.1M
20.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J Yuskaitis, Catherine L Salussolia, Daniel Ebrahimi-Fakhari, Toni S Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David R Bearden, Shenela Lakhani, Devorah Segal, Anaita Udwadia-Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayse Aksoy, Helene Verhelst, Mauricio R Delgado, Radka Kremlikova Pourova, Abdelrahim A Sadek, Nour M Elkhateeb, Lubov Blumkin, Alejandro J Brea-Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Elizabeth Lim-Melia, Nur Aydinli, Yasemin Alanay, Omnia El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, Mireille Guillot, Steven P Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah S Alamri, Adel A H Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna C Jansen, Stefanie Brock, Agathe Roubertie, Basil T Darras, Pankaj B Agrawal, Filippo M Santorelli, Joseph Gleeson, Maha S Zaki, Sarah I Sheikh, James T Bennett, Mustafa Sahin
Brain. 2020 Oct; 143(10): 2929–2944. Published online 2020 Sep 26. doi: 10.1093/brain/awz307
Correction in:
Brain. 2021 Mar; 144(3): e33.
PMCID:
PMC7780481
AbstractArticlePDF–1.4M

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