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Items: 1 to 20 of 52

1.
Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract
Esra Kesdiren, Helge Martens, Frank Brand, Lina Werfel, Lukas Wedekind, Mark-Oliver Trowe, Jessica Schmitz, Imke Hennies, Robert Geffers, Zoran Gucev, Tomáš Seeman, Sonja Schmidt, Velibor Tasic, Laurent Fasano, Jan H. Bräsen, Andreas Kispert, Anne Christians, Dieter Haffner, Ruthild G. Weber
Eur J Hum Genet. 2025 Jan; 33(1): 44–55. Published online 2024 Oct 17. doi: 10.1038/s41431-024-01710-y
PMCID:
PMC11711546
ArticlePDF–4.0M
2.
Upregulation of Apoptosis Related Genes in Clinically Normal Tongue Contralateral to Squamous Cell Carcinoma of the Oral Tongue, an Effort to Maintain Tissue Homeostasis
Nima Attaran, Philip J Coates, Katarina Zborayova, Nicola Sgaramella, Karin Nylander, Xiaolian Gu
Head Neck Pathol. 2024 Dec; 18(1): 89. Published online 2024 Sep 30. doi: 10.1007/s12105-024-01695-6
PMCID:
PMC11442960
ArticlePDF–1.5M
3.
A novel missense variant located within the zinc finger domain of the GLI3 gene was identified in a Vietnamese pedigree with index finger polydactyly
Thy Ngoc Nguyen, Giang Son Tran, Hai Duc Hoang, Long Giang Nguyen
Mol Genet Genomic Med. 2024 Jun; 12(6): e2468. Published online 2024 Jun 12. doi: 10.1002/mgg3.2468
PMCID:
PMC11167515
ArticlePDF–1.3M
4.
Children with Rare Nager Syndrome—Literature Review, Clinical and Physiotherapeutic Management
Bożena Anna Marszałek-Kruk, Andrzej Myśliwiec, Anna Lipowicz, Wojciech Wolański, Małgorzata Kulesa-Mrowiecka, Krzysztof Dowgierd
Genes (Basel) 2024 Jan; 15(1): 29. Published online 2023 Dec 24. doi: 10.3390/genes15010029
PMCID:
PMC10815867
ArticlePDF–2.5M
5.
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
ArticlePDF–1.0M
6.
A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes
Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Genes (Basel) 2023 Apr; 14(4): 849. Published online 2023 Mar 31. doi: 10.3390/genes14040849
PMCID:
PMC10137688
ArticlePDF–2.5M
7.
Natural history of KBG syndrome in a large European cohort
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Isis Atallah, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Hum Mol Genet. 2022 Dec 15; 31(24): 4131–4142. Published online 2022 Jul 21. doi: 10.1093/hmg/ddac167
PMCID:
PMC9759332
ArticlePDF–1.5M
8.
Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant
Kerstin Jurk, Anke Adenaeuer, Stefanie Sollfrank, Kathrin Groß, Friederike Häuser, Andreas Czwalinna, Josef Erkel, Nele Fritsch, Dana Marandiuc, Martin Schaller, Karl J. Lackner, Heidi Rossmann, Frauke Bergmann
Cells. 2022 Oct; 11(19): 3071. Published online 2022 Sep 29. doi: 10.3390/cells11193071
PMCID:
PMC9564339
ArticlePDF–6.8M
9.
Cernunnos defect in an Iranian patient with T− B+NK+ severe combined immunodeficiency: A case report and review of the literature
Mahnaz Jamee, Nasrin Khakbazan Fard, Shahrzad Fallah, Zahra Golchehre, Mazdak Fallahi, Bibi Shahin Shamsian, Samin Sharafian, Zahra Chavoshzadeh
Mol Genet Genomic Med. 2022 Aug; 10(8): e1990. Published online 2022 Jun 2. doi: 10.1002/mgg3.1990
PMCID:
PMC9356558
ArticlePDF–1.9M
10.
BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka
Mol Genet Genomic Med. 2021 Mar; 9(3): e1594. Published online 2021 Jan 24. doi: 10.1002/mgg3.1594
PMCID:
PMC8104157
ArticlePDF–1.0M
11.
La trisomie 18 ou syndrome d'Edwards en post-natal: étude descriptive au Centre Hospitalier Universitaire de Casablanca et revue de littérature
Fatima Zahra Outtaleb, Rachida Errahli, Nora Imelloul, Ghizlane Jabrane, Nadia Serbati, Hind Dehbi
Pan Afr Med J. 2020; 37: 309. French. Publication en ligne 2020 déc. 3. DOI : 10.11604/pamj.2020.37.309.26205
PMCID:
PMC7896527
ArticlePDF–310K
12.
The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature
Shaoyang Lai, Xueqin Zhang, Ling Feng, Mengzhou He, Shaoshuai Wang
Medicine (Baltimore) 2020 Oct 16; 99(42): e22533. Published online 2020 Oct 16. doi: 10.1097/MD.0000000000022533
PMCID:
PMC7571886
ArticlePDF–639K
13.
γ-Aminobutyric Acid Enhances Heat Tolerance Associated with the Change of Proteomic Profiling in Creeping Bentgrass
Zhou Li, Weihang Zeng, Bizhen Cheng, Ting Huang, Yan Peng, Xinquan Zhang
Molecules. 2020 Sep; 25(18): 4270. Published online 2020 Sep 18. doi: 10.3390/molecules25184270
PMCID:
PMC7571209
ArticlePDF–4.2M
14.
A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report
Qingyang Shi, Rulin Dai, Ruixue Wang, Jili Jing, Xiaowei Yu, Ruizhi Liu, Yanhong Liu
Medicine (Baltimore) 2020 Sep 25; 99(39): e22340. Published online 2020 Sep 25. doi: 10.1097/MD.0000000000022340
PMCID:
PMC7523854
ArticlePDF–761K
15.
A novel heterozygous MKRN3 nonsense mutation in a Chinese girl with idiopathic central precocious puberty: A case report
Meijuan Liu, Lijun Fan, Chun Xiu Gong
Medicine (Baltimore) 2020 Sep 18; 99(38): e22295. Published online 2020 Sep 18. doi: 10.1097/MD.0000000000022295
PMCID:
PMC7505322
ArticlePDF–386K
16.
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene
Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek
J Clin Res Pediatr Endocrinol. 2020 Sep; 12(3): 319–328. Published online 2020 Sep 2. doi: 10.4274/jcrpe.galenos.2019.2019.0142
PMCID:
PMC7499131
ArticlePDF–664K
17.
Mowat-Wilson syndrome: growth charts
Ivan Ivanovski, Olivera Djuric, Serena Broccoli, Stefano Giuseppe Caraffi, Patrizia Accorsi, Margaret P. Adam, Kristina Avela, Magdalena Badura-Stronka, Allan Bayat, Jill Clayton-Smith, Isabella Cocco, Duccio Maria Cordelli, Goran Cuturilo, Veronica Di Pisa, Juliette Dupont Garcia, Roberto Gastaldi, Lucio Giordano, Andrea Guala, Christina Hoei-Hansen, Mie Inaba, Alessandro Iodice, Jens Erik Klint Nielsen, Vladimir Kuburovic, Brissia Lazalde-Medina, Baris Malbora, Seiji Mizuno, Oana Moldovan, Rikke S. Møller, Petra Muschke, Valeria Otelli, Chiara Pantaleoni, Carmelo Piscopo, Maria Luisa Poch-Olive, Igor Prpic, Purificación Marín Reina, Federico Raviglione, Emilia Ricci, Emanuela Scarano, Graziella Simonte, Robert Smigiel, George Tanteles, Luigi Tarani, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Karin Writzl, Bert Callewaert, Salvatore Savasta, Maria Elisabeth Street, Lorenzo Iughetti, Sergio Bernasconi, Paolo Giorgi Rossi, Livia Garavelli
Orphanet J Rare Dis. 2020; 15: 151. Published online 2020 Jun 15. doi: 10.1186/s13023-020-01418-4
PMCID:
PMC7294656
ArticlePDF–2.2M
18.
Role of testosterone and Y chromosome genes for the masculinization of the human brain
Ivanka Savic, Louise Frisen, Amirhossein Manzouri, Anna Nordenstrom, Angelica Lindén Hirschberg
Hum Brain Mapp. 2017 Apr; 38(4): 1801–1814. Published online 2017 Jan 10. doi: 10.1002/hbm.23483
PMCID:
PMC6867124
ArticlePDF–374K
19.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krumina, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Julia Baptista, Adam Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O. Hashem, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M. Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2019 Aug 1; 105(2): 384–394. Published online 2019 Jun 27. doi: 10.1016/j.ajhg.2019.05.019
PMCID:
PMC6698938
ArticlePDF–2.3M
20.
Functional Motor Control Deficits in Older FMR1 Premutation Carriers
Seoung Hoon Park, Zheng Wang, Walker McKinney, Pravin Khemani, Su Lui, Evangelos A. Christou, Matthew W. Mosconi
Exp Brain Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Exp Brain Res. 2019 Sep; 237(9): 2269–2278. Published online 2019 Jun 3. doi: 10.1007/s00221-019-05566-3
PMCID:
PMC6679741
ArticlePDF–447K

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