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Select item 104430691.

A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency

Delia Nicoară, Cristina Niță, Ana Stanilă, Alexandru Martiniuc, Laura Popa, Eliana Petrescu, Mihaela Bătăneant, Ruxandra Ciofu, Adriana Guriță, Radu Tabăcaru, Ruxandra Ionescu, Laura Groșeanu

Immun Inflamm Dis. 2023 Aug; 11(8): e930. Published online 2023 Aug 22. doi: 10.1002/iid3.930

PMCID:: PMC10443069

Article PDF–5.8M

Select item 96900282.

Different Types of Deletions Created by Low-Copy Repeats Sequences Location in 22q11.2 Deletion Syndrome: Genotype–Phenotype Correlation

Eva-Cristiana Gavril, Roxana Popescu, Irina Nucă, Cristian-Gabriel Ciobanu, Lăcrămioara Ionela Butnariu, Cristina Rusu, Monica-Cristina Pânzaru

Genes (Basel) 2022 Nov; 13(11): 2083. Published online 2022 Nov 10. doi: 10.3390/genes13112083

PMCID:: PMC9690028

Article PDF–3.4M

Select item 96267103.

Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing

Emran Esmaeilzadeh, Zhila Ghaderi, Arman Moradi, Hamid Reza Khorram Khorshid

CEN Case Rep. 2022 Nov; 11(4): 404–407. Published online 2022 Feb 18. doi: 10.1007/s13730-022-00692-4

PMCID:: PMC9626710

Article PDF–1.0M

Select item 94612194.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

Gregorio Serra, Clara Giambrone, Vincenzo Antona, Francesca Cardella, Maurizio Carta, Marcello Cimador, Giovanni Corsello, Mario Giuffrè, Vincenzo Insinga, Maria Cristina Maggio, Marco Pensabene, Ingrid Anne Mandy Schierz, Ettore Piro

Ital J Pediatr. 2022; 48: 170. Published online 2022 Sep 8. doi: 10.1186/s13052-022-01365-9

PMCID:: PMC9461219

Article PDF–910K

Select item 90172215.

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

Guoliang Chai, Emmanuelle Szenker-Ravi, Changuk Chung, Zhen Li, Lu Wang, Muznah Khatoo, Trevor Marshall, Nan Jiang, Xiaoxu Yang, Jennifer McEvoy-Venneri, Valentina Stanley, Paula Anzenberg, Nhi Lang, Vanessa Wazny, Jia Yu, David M. Virshup, Rie Nygaard, Filippo Mancia, Rijad Merdzanic, Maria B.P. Toralles, Paula M.L. Pitanga, Ratna D. Puri, Rebecca Hernan, Wendy K. Chung, Aida M. Bertoli-Avella, Nouriya Al-Sannaa, Maha S. Zaki, Karl Willert, Bruno Reversade, Joseph G. Gleeson

N Engl J Med. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: N Engl J Med. 2021 Sep 30; 385(14): 1292–1301. doi: 10.1056/NEJMoa2033911

PMCID:: PMC9017221

Article PDF–923K

Select item 89468146.

Neurons with Cat’s Eyes: A Synthetic Strain of α-Synuclein Fibrils Seeding Neuronal Intranuclear Inclusions

Francesca De Giorgi, Muhammed Bilal Abdul-Shukkoor, Marianna Kashyrina, Leslie-Ann Largitte, Francesco De Nuccio, Brice Kauffmann, Alons Lends, Florent Laferrière, Sébastien Bonhommeau, Dario Domenico Lofrumento, Luc Bousset, Erwan Bezard, Thierry Buffeteau, Antoine Loquet, François Ichas

Biomolecules. 2022 Mar; 12(3): 436. Published online 2022 Mar 11. doi: 10.3390/biom12030436

PMCID:: PMC8946814

Article PDF–11M

Select item 89345327.

Positively selected genes in the hoary bat (Lasiurus cinereus) lineage: prominence of thymus expression, immune and metabolic function, and regions of ancient synteny

Robert S. Cornman, Paul M. Cryan

PeerJ. 2022; 10: e13130. Published online 2022 Mar 17. doi: 10.7717/peerj.13130

PMCID:: PMC8934532

Article PDF–7.9M

Select item 85800728.

Next‐generation phenotyping in cat‐eye syndrome based on computer‐aided facial dysmorphology analysis of normal photographs

Thomas Liehr, Nicole Fleischer, Ahmed Al‐Rikabi

Mol Genet Genomic Med. 2021 Oct; 9(10): e1785. Published online 2021 Aug 25. doi: 10.1002/mgg3.1785

PMCID:: PMC8580072

Article PDF–317K

Select item 84691519.

A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot

Alessia Cafaro, Federica Pigliasco, Sebastiano Barco, Federica Penco, Francesca Schena, Roberta Caorsi, Stefano Volpi, Gino Tripodi, Marco Gattorno, Giuliana Cangemi

Molecules. 2021 Sep; 26(18): 5707. Published online 2021 Sep 21. doi: 10.3390/molecules26185707

PMCID:: PMC8469151

Article PDF–322K

Select item 788429510.

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome

Leonardo Colombo, Paolo E. Maltese, Marco Castori, Said El Shamieh, Christina Zeitz, Isabelle Audo, Alessandra Zulian, Carla Marinelli, Sabrina Benedetti, Alisia Costantini, Simone Bressan, Marcella Percio, Paolo Ferri, Andi Abeshi, Matteo Bertelli, Luca Rossetti

Invest Ophthalmol Vis Sci. 2021 Feb; 62(2): 13. Published online 2021 Feb 12. doi: 10.1167/iovs.62.2.13

PMCID:: PMC7884295

Article PDF–1.2M

Select item 788037511.

Prenatal diagnosis and molecular cytogenetic identification of small supernumerary marker chromosomes: analysis of three prenatal cases using chromosome microarray analysis

Huili Xue, Xuemei Chen, Min Lin, Na Lin, Hailong Huang, Aili Yu, Liangpu Xu

Aging (Albany NY) 2021 Jan 31; 13(2): 2135–2148. Published online 2020 Dec 9. doi: 10.18632/aging.202220

PMCID:: PMC7880375

Article PDF–1.0M

Select item 670827412.

Transplantation of Human Embryonic Stem Cell-Derived Retinal Tissue in the Subretinal Space of the Cat Eye

Ratnesh K. Singh, Laurence M. Occelli, Francois Binette, Simon M. Petersen-Jones, Igor O. Nasonkin

Stem Cells Dev. 2019 Sep 1; 28(17): 1151–1166. Published online 2019 Aug 23. doi: 10.1089/scd.2019.0090

PMCID:: PMC6708274

Article PDF–2.7M

Select item 668433913.

Renal and urinary tract abnormalities associated with chromosome aberrations

A. Y. Barakat, M.G. Butler

Int J Pediatr Nephrol. Author manuscript; available in PMC 2019 Aug 6.

Published in final edited form as: Int J Pediatr Nephrol. 1987 Oct-Dec; 8(4): 215–226.

PMCID:: PMC6684339

Article PDF–331K

Select item 561148114.

CECR1-mediated cross talk between macrophages and vascular mural cells promotes neovascularization in malignant glioma

C Zhu, I Chrifi, D Mustafa, M van der Weiden, P J M Leenen, D J Duncker, J M Kros, C Cheng

Oncogene. 2017 Sep 21; 36(38): 5356–5368. Published online 2017 May 22. doi: 10.1038/onc.2017.145

PMCID:: PMC5611481

Article PDF–6.9M

Select item 501526215.

Monogenic polyarteritis: the lesson of ADA2 deficiency

Roberta Caorsi, Federica Penco, Francesca Schena, Marco Gattorno

Pediatr Rheumatol Online J. 2016; 14(1): 51. Published online 2016 Sep 8. doi: 10.1186/s12969-016-0111-7

PMCID:: PMC5015262

Article PDF–1.0M

Select item 485240816.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen, Heiko Reutter, Michael Ludwig, Markus Draaken

BMC Med Genet. 2016; 17: 35. Published online 2016 Apr 30. doi: 10.1186/s12881-016-0299-x

PMCID:: PMC4852408

Article PDF–825K

Select item 463559717.

Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities

Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson, Sha Tang

BMC Med Genet. 2015; 16: 102. Published online 2015 Nov 5. doi: 10.1186/s12881-015-0240-8

PMCID:: PMC4635597

Article PDF–1.4M

Select item 426673918.

Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

Trilochan Sahoo, Jia-Chi Wang, Mohamed M Elnaggar, Pedro Sanchez-Lara, Leslie P Ross, Loretta W Mahon, Katayoun Hafezi, Abigail Deming, Lynne Hinman, Yovana Bruno, James A Bartley, Thomas Liehr, Arturo Anguiano, Marilyn Jones

Eur J Hum Genet. 2015 Jan; 23(1): 61–66. Published online 2014 Apr 9. doi: 10.1038/ejhg.2014.53

PMCID:: PMC4266739

Article PDF–1.9M

Select item 421281319.

When less is more: primary immunodeficiency with an autoinflammatory kick

Angeliki Giannelou, Qing Zhou, Daniel L. Kastner

Curr Opin Allergy Clin Immunol. 2014 Dec; 14(6): 491–500. Published online 2014 Oct 30. doi: 10.1097/ACI.0000000000000117

PMCID:: PMC4212813

Article PDF–1.0M

Select item 388777520.

Genome-Wide Screen of Human Bromodomain-Containing Proteins Identifies Cecr2 as a Novel DNA Damage Response Protein

Seul-Ki Lee, Eun-Jung Park, Han-Sae Lee, Ye Seul Lee, Jongbum Kwon

Mol Cells. 2012 Jul 31; 34(1): 85–91. Published online 2012 Jun 12. doi: 10.1007/s10059-012-0112-4

PMCID:: PMC3887775

Article PDF–830K

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