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Items: 16

1.
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel Martinez, Max Muenke, Alexander Balzer, Judith Jochim, Naji El Choubassi, Björn Fischer-Zirnsak, Céline Huber, Uwe Kornak, Sarah Elsea, Valérie Cormier-Daire, Carlos R. Ferreira
Bone. Author manuscript; available in PMC 2023 Sep 26.
Published in final edited form as: Bone. 2020 Apr; 133: 115219. Published online 2020 Jan 7. doi: 10.1016/j.bone.2019.115219
PMCID:
PMC10521254
AbstractArticlePDF–1.0M
2.
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
Denise Rebello, Elizabeth Wohler, Vida Erfani, Guozhuang Li, Alexya N Aguilera, Alberto Santiago-Cornier, Sen Zhao, Steven W Hwang, Robert D Steiner, Terry Jianguo Zhang, Christina A Gurnett, Cathleen Raggio, Nan Wu, Nara Sobreira, Philip F Giampietro, Brian Ciruna
Hum Mol Genet. 2023 Oct 1; 32(19): 2913–2928. Published online 2023 Jul 18. doi: 10.1093/hmg/ddad117
PMCID:
PMC10508038
AbstractArticlePDF–3.0M
3.
Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort
Burak Altintas, Neelam Giri, Lisa J. McReynolds, Ana Best, Blanche P. Alter
Haematologica. 2023 Jan 1; 108(1): 69–82. Published online 2022 Apr 14. doi: 10.3324/haematol.2021.279981
PMCID:
PMC9827153
AbstractArticlePDF–1.5M
4.
Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature
Tomomi Kotani, Hiroyuki Tsuda, Yumiko Ito, Noriyuki Nakamura, Takafumi Ushida, Kenji Imai, Yukako Iitani, Kazuya Fuma, Yukako Muramatsu, Masahiro Hayakawa, Hiroaki Kajiyama
J Med Case Rep. 2022; 16: 481. Published online 2022 Dec 27. doi: 10.1186/s13256-022-03713-z
PMCID:
PMC9793530
AbstractArticlePDF–1.1M
5.
ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives
Syed Fakhar‐ul‐Hassnain Waqas, Aaqib Sohail, Ariane Hai Ha Nguyen, Abdulai Usman, Tobias Ludwig, Andre Wegner, Muhammad Nasir Hayat Malik, Sven Schuchardt, Robert Geffers, Moritz Winterhoff, Sylvia Merkert, Ulrich Martin, Ruth Olmer, Nico Lachmann, Frank Pessler
Clin Transl Med. 2022 Jul; 12(7): e931. Published online 2022 Jul 17. doi: 10.1002/ctm2.931
PMCID:
PMC9288839
AbstractArticlePDF–2.9M
6.
A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome
Isabel Schüle, Urs Berger, Uta Matysiak, Gunda Ruzaike, Brigitte Stiller, Martin Pohl, Ute Spiekerkoetter, Ekkehart Lausch, Sarah C. Grünert, Miriam Schmidts
Genes (Basel) 2021 Jun; 12(6): 879. Published online 2021 Jun 7. doi: 10.3390/genes12060879
PMCID:
PMC8227568
AbstractArticlePDF–2.0M
7.
Maternal risk factors for the VACTERL association: A EUROCAT case–control study
Romy van de Putte, Iris A.L.M. van Rooij, Cynthia P. Haanappel, Carlo L.M. Marcelis, Han G. Brunner, Marie‐Claude Addor, Clara Cavero‐Carbonell, Carlos M. Dias, Elizabeth S. Draper, Larraitz Etxebarriarteun, Miriam Gatt, Babak Khoshnood, Agnieszka Kinsner‐Ovaskainen, Kari Klungsoyr, Jenny J. Kurinczuk, Anna Latos‐Bielenska, Karen Luyt, Mary T. O'Mahony, Nicola Miller, Carmel Mullaney, Vera Nelen, Amanda J. Neville, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Bruno Schaub, David Tucker, Diana Wellesley, Awi Wiesel, Natalya Zymak‐Zakutnia, Maria Loane, Ingeborg Barisic, Hermien E.K. de Walle, Jorieke E.H. Bergman, Nel Roeleveld
Birth Defects Res. 2020 May 15; 112(9): 688–698. Published online 2020 Apr 22. doi: 10.1002/bdr2.1686
PMCID:
PMC7319423
AbstractArticlePDF–2.0M
8.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
Justin O. Szot, Carla Campagnolo, Ye Cao, Kavitha R. Iyer, Hartmut Cuny, Thomas Drysdale, Josue A. Flores-Daboub, Weimin Bi, Lauren Westerfield, Pengfei Liu, Tse Ngong Leung, Kwong Wai Choy, Gavin Chapman, Rui Xiao, Victoria M. Siu, Sally L. Dunwoodie
Am J Hum Genet. 2020 Jan 2; 106(1): 129–136. Published online 2019 Dec 26. doi: 10.1016/j.ajhg.2019.12.006
PMCID:
PMC7042491
AbstractArticlePDF–893K
9.
Genome-wide chromatin accessibility and transcriptome profiling show minimal epigenome changes and coordinated transcriptional dysregulation of hedgehog signaling in Danforth’s short tail mice
Peter Orchard, James S White, Peedikayil E Thomas, Anna Mychalowych, Anya Kiseleva, John Hensley, Benjamin Allen, Stephen C J Parker, Catherine E Keegan
Hum Mol Genet. 2019 Mar 1; 28(5): 736–750. Published online 2018 Oct 31. doi: 10.1093/hmg/ddy378
PMCID:
PMC6381317
AbstractArticlePDF–63M
10.
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BMC Med Genet. 2017; 18: 125. Published online 2017 Nov 6. doi: 10.1186/s12881-017-0483-7
PMCID:
PMC5674755
AbstractArticlePDF–602K
11.
Pcsk5 is required in the early cranio-cardiac mesoderm for heart development
Dorota Szumska, Milena Cioroch, Angela Keeling, Annik Prat, Nabil G. Seidah, Shoumo Bhattacharya
BMC Dev Biol. 2017; 17: 6. Published online 2017 Apr 26. doi: 10.1186/s12861-017-0148-y
PMCID:
PMC5407003
AbstractArticlePDF–4.4M
12.
Structural and numerical changes of chromosome X in patients with esophageal atresia
Erwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, Bert H Eussen, Barbara D'haene, Elfride De Baere, Hannah Verdin, Pino J Poddighe, Robert-Jan Galjaard, Joost Gribnau, Alice S Brooks, Dick Tibboel, Annelies de Klein
Eur J Hum Genet. 2014 Sep; 22(9): 1077–1084. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.295
PMCID:
PMC4135408
AbstractArticlePDF–1.3M
13.
VACTERL/VATER Association
Benjamin D Solomon
Orphanet J Rare Dis. 2011; 6: 56. Published online 2011 Aug 16. doi: 10.1186/1750-1172-6-56
PMCID:
PMC3169446
AbstractArticlePDF–380K
14.
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature
Charles Shaw-Smith
Eur J Med Genet. 2010 Jan; 53(1-3): 6–13. doi: 10.1016/j.ejmg.2009.10.001
PMCID:
PMC2809919
AbstractArticle
15.
VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
Dorota Szumska, Guido Pieles, Rachid Essalmani, Michal Bilski, Daniel Mesnard, Kulvinder Kaur, Angela Franklyn, Kamel El Omari, Joanna Jefferis, Jamie Bentham, Jennifer M. Taylor, Jurgen E. Schneider, Sebastian J. Arnold, Paul Johnson, Zuzanna Tymowska-Lalanne, Dave Stammers, Kieran Clarke, Stefan Neubauer, Andrew Morris, Steve D. Brown, Charles Shaw-Smith, Armando Cama, Valeria Capra, Jiannis Ragoussis, Daniel Constam, Nabil G. Seidah, Annik Prat, Shoumo Bhattacharya
Genes Dev. 2008 Jun 1; 22(11): 1465–1477. doi: 10.1101/gad.479408
PMCID:
PMC2418583
AbstractArticlePDF–1.4M
16.
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome
Karine Morcel, Laure Camborieux, Programme de Recherches sur les Aplasies Müllériennes (PRAM), Daniel Guerrier
Orphanet J Rare Dis. 2007; 2: 13. Published online 2007 Mar 14. doi: 10.1186/1750-1172-2-13
PMCID:
PMC1832178
AbstractArticlePDF–378K

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