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Items: 1 to 20 of 101

1.
CrPS4 Nanoflakes as Stable Direct-Band-Gap 2D Materials for Ultrafast Pulse Laser Applications
Wenyao Zhang, Yu Zhang, Xudong Leng, Qun Jing, Qiao Wen
Nanomaterials (Basel) 2023 Mar; 13(6): 1128. Published online 2023 Mar 22. doi: 10.3390/nano13061128
PMCID:
PMC10052116
AbstractArticlePDF–3.0M
2.
Tuning SAS-6 architecture with monobodies impairs distinct steps of centriole assembly
Georgios N. Hatzopoulos, Tim Kükenshöner, Niccolò Banterle, Tatiana Favez, Isabelle Flückiger, Virginie Hamel, Santiago Andany, Georg E. Fantner, Oliver Hantschel, Pierre Gönczy
Nat Commun. 2021; 12: 3805. Published online 2021 Jun 21. doi: 10.1038/s41467-021-23897-0
PMCID:
PMC8217511
AbstractArticlePDF–10M
3.
The two-dimensional thio­phosphate CsCrP2S7
Kyounghee Kim, Jooran Na, Hoseop Yun
Acta Crystallogr Sect E Struct Rep Online. 2010 Sep 1; 66(Pt 9): i65. Published online 2010 Aug 11. doi: 10.1107/S1600536810030655
PMCID:
PMC3008118
AbstractArticlePDF–532K
4.
The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
Yin-Huai Chen, Sarah van Zon, Alex Adams, Dirk Schmidt-Arras, Arian D. J. Laurence, Holm H. Uhlig
J Clin Immunol. 2024; 44(1): 30. Published online 2023 Dec 22. doi: 10.1007/s10875-023-01603-7
PMCID:
PMC10746620
AbstractArticlePDF–1.5M
5.
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu
Hum Genet. 2023; 142(11): 1571–1586. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02598-2
PMCID:
PMC10602971
AbstractArticlePDF–4.1M
6.
Dog breeds and conformations in the UK in 2019: VetCompass canine demography and some consequent welfare implications
Dan G. O’Neill, Kirsten M. McMillan, David B. Church, Dave C. Brodbelt
PLoS One. 2023; 18(7): e0288081. Published online 2023 Jul 26. doi: 10.1371/journal.pone.0288081
PMCID:
PMC10370710
AbstractArticlePDF–1.1M
7.
Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis
Carolina Medina-Gomez, Benjamin H. Mullin, Alessandra Chesi, Vid Prijatelj, John P. Kemp, Chen Shochat-Carvalho, Katerina Trajanoska, Carol Wang, Raimo Joro, Tavia E. Evans, Katharina E. Schraut, Ruifang Li-Gao, Tarunveer S. Ahluwalia, M. Carola Zillikens, Kun Zhu, Dennis O. Mook-Kanamori, Daniel S. Evans, Maria Nethander, Maria J. Knol, Gudmar Thorleifsson, Ivana Prokic, Babette Zemel, Linda Broer, Fiona E. McGuigan, Natasja M. van Schoor, Sjur Reppe, Mikolaj A. Pawlak, Stuart H. Ralston, Nathalie van der Velde, Mattias Lorentzon, Kari Stefansson, Hieab H. H. Adams, Scott G. Wilson, M. Arfan Ikram, John P. Walsh, Timo A. Lakka, Kaare M. Gautvik, James F. Wilson, Eric S. Orwoll, Cornelia M. van Duijn, Klaus Bønnelykke, Andre G. Uitterlinden, Unnur Styrkársdóttir, Kristina E. Akesson, Timothy D. Spector, Jonathan H. Tobias, Claes Ohlsson, Janine F. Felix, Hans Bisgaard, Struan F. A. Grant, J. Brent Richards, David M. Evans, Bram van der Eerden, Jeroen van de Peppel, Cheryl Ackert-Bicknell, David Karasik, Erika Kague, Fernando Rivadeneira
Commun Biol. 2023; 6: 691. Published online 2023 Jul 4. doi: 10.1038/s42003-023-04869-0
PMCID:
PMC10319806
AbstractArticlePDF–4.7M
8.
Transcriptomic Signatures of Single-Suture Craniosynostosis Phenotypes
Samantha Lapehn, Jonas A. Gustafson, Andrew E. Timms, Michael L. Cunningham, Alison G. Paquette
Int J Mol Sci. 2023 Mar; 24(6): 5353. Published online 2023 Mar 10. doi: 10.3390/ijms24065353
PMCID:
PMC10049207
AbstractArticlePDF–1.8M
9.
Molecular genetics of human developmental neurocranial anomalies: towards “precision surgery”
Phan Q Duy, Andrew T Timberlake, Richard P Lifton, Kristopher T Kahle
Cereb Cortex. 2023 Mar 15; 33(6): 2912–2918. Published online 2022 Jun 24. doi: 10.1093/cercor/bhac249
PMCID:
PMC10016031
AbstractArticlePDF–637K
10.
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu
Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465
PMCID:
PMC9957522
AbstractArticlePDF–2.1M
11.
ERN CRANIO patient coverage of craniosynostosis in Europe
O. Spivack, L. Gaillard, ERN CRANIO hospital representatives
Orphanet J Rare Dis. 2022; 17: 333. Published online 2022 Sep 2. doi: 10.1186/s13023-022-02475-7
PMCID:
PMC9438281
AbstractArticlePDF–1.1M
12.
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R. Kianmahd, Anna Yu, Lauren Chad, Gregory Costain, Wen-Hann Tan, Stephen W. Scherer, Valerie A. Arboleda, Bianca E. Russell, Rosanna Weksberg
Eur J Hum Genet. 2022 Jun; 30(6): 695–702. Published online 2022 Apr 1. doi: 10.1038/s41431-022-01083-0
PMCID:
PMC9177544
AbstractArticlePDF–1.3M
13.
Genetic influence on neurodevelopment in non-syndromic craniosynostosis
Andrew T. Timberlake, Alexandra Junn, Roberto Flores, David A. Staffenberg, Richard P. Lifton, John A. Persing
Plast Reconstr Surg. Author manuscript; available in PMC 2023 May 1.
Published in final edited form as: Plast Reconstr Surg. 2022 May 1; 149(5): 1157–1165. Published online 2022 Mar 14. doi: 10.1097/PRS.0000000000008976
PMCID:
PMC9050795
AbstractArticlePDF–515K
14.
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
Gregorio Serra, Vincenzo Antona, Mario Giuffrè, Ettore Piro, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello
Ital J Pediatr. 2022; 48: 38. Published online 2022 Mar 4. doi: 10.1186/s13052-022-01232-7
PMCID:
PMC8896361
AbstractArticlePDF–1.1M
15.
Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature
Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156
PMCID:
PMC8842511
AbstractArticlePDF–442K
16.
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review
Kinga Kozma, Marius Bembea, Claudia M. Jurca, Mihai Ioana, Ioana Streață, Simona Ş. Şoşoi, Andrei Pirvu, Codruța D. Petchesi, Ariana Szilágyi, Cristian N. Sava, Alexandru Jurca, Anikó Ujfalusi, Zsuzsanna Szűcs, Katalin Szakszon
Genes (Basel) 2021 Nov; 12(11): 1674. Published online 2021 Oct 23. doi: 10.3390/genes12111674
PMCID:
PMC8623992
AbstractArticlePDF–501K
17.
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease
Khalda Sayed Amr, Hala T. El-Bassyouni, Sawsan Abdel Hady, Mostafa I. Mostafa, Mennat I. Mehrez, Domenico Coviello, Ghada Y. El-Kamah
Genes (Basel) 2021 Oct; 12(10): 1552. Published online 2021 Sep 29. doi: 10.3390/genes12101552
PMCID:
PMC8535549
AbstractArticlePDF–2.2M
18.
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene
Ewelina Bukowska-Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Orphanet J Rare Dis. 2021; 16: 286. Published online 2021 Jun 26. doi: 10.1186/s13023-021-01914-1
PMCID:
PMC8236199
AbstractArticlePDF–1.9M
19.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Lore Pottie, Christin S. Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L. Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E. Urquhart, William G. Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri, Monerah Alsaleh, Sawsan Mohamed Abdullah, Mohammad Al-Owain, Mais Hashem, Henry Houlden, Fowzan S. Alkuraya, Patrick Sips, Gerhard Sengle, Bert Callewaert
Am J Hum Genet. 2021 Jun 3; 108(6): 1095–1114. Published online 2021 May 14. doi: 10.1016/j.ajhg.2021.04.016
Correction in:
Am J Hum Genet. 2021 Dec 2; 108(12): 2386–2388.
PMCID:
PMC8206382
AbstractArticlePDF–5.3M
20.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A. de Man, Heidi Cope, Vandana Shashi, Undiagnosed Diseases Network, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M. van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frédéric Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M. B. H. van de Laar, Marjon A. van Slegtenhorst, Philippe M. Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J. Louie, Michael J. Lyons, Amy Dobson, Astrid S. Plomp, M. Mahdi Motazacker, Frank J. Kaiser, Andrew T. Timberlake, Sabine A. Fuchs, Christel Depienne, Cyril Mignot
Hum Genet. 2021; 140(7): 1109–1120. Published online 2021 May 4. doi: 10.1007/s00439-021-02283-2
PMCID:
PMC8197709
AbstractArticlePDF–2.0M

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