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Items: 1 to 20 of 279

1.
Tetraparesis following thoracic spine surgery in a patient with Klippel–Feil syndrome and ABCB4 mutation: a case report
Michele Da Broi, Aria Nouri, Gildas Patet, Luca Paun, Andrea Bartoli, Granit Molliqaj, Karl Schaller, Enrico Tessitore
J Med Case Rep. 2023; 17: 528. Published online 2023 Dec 23. doi: 10.1186/s13256-023-04263-8
PMCID:
PMC10748435
ArticlePDF–1.2M
2.
A Stop-gain Variant c.220C>T (p.(Gln74*)) in FLNB Segregates with Spondylocarpotarsal Synostosis Syndrome in a Consanguineous Family
Hamna Shahid, Nazish Shakoor, Anisa Bibi, Asma Saleem Qazi, Rida Fatima Saeed, Aqeela Nawaz, Sajid Malik, Sara Mumtaz
Yale J Biol Med. 2023 Sep; 96(3): 383–396. Published online 2023 Sep 29. doi: 10.59249/UTCP9818
PMCID:
PMC10524816
ArticlePDF–1.0M
3.
Lanspora dorisauae, a new marine fungus from rocky shores in Taiwan
Ka-Lai Pang, Sheng-Yu Guo, Ami Shaumi, Satinee Suetrong, Anupong Klaysuban, Michael W. L. Chiang, E. B. Gareth Jones
PeerJ. 2023; 11: e15958. Published online 2023 Aug 28. doi: 10.7717/peerj.15958
PMCID:
PMC10470443
ArticlePDF–11M
4.
New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
Gregorio Serra, Vincenzo Antona, Marcello Cimador, Giorgia Collodoro, Marco Guida, Ettore Piro, Ingrid Anne Mandy Schierz, Vincenzo Verde, Mario Giuffrè, Giovanni Corsello
Ital J Pediatr. 2023; 49: 17. Published online 2023 Feb 9. doi: 10.1186/s13052-023-01421-y
PMCID:
PMC9909891
ArticlePDF–1.2M
5.
Identifying patients with EVEN‐plus syndrome using exome sequencing and clinical feature analysis: A case report
Hua‐Wei Li, Bing‐Xiang Ma, Ya‐Min Kong, Hong Zheng, Xue‐Yuan Zhang
Mol Genet Genomic Med. 2022 Nov; 10(11): e2039. Published online 2022 Sep 2. doi: 10.1002/mgg3.2039
PMCID:
PMC9651607
ArticlePDF–1.3M
6.
Computational analysis on two putative mitochondrial protein-coding genes from the Emydura subglobosa genome: A functional annotation approach
Megan Yu
PLoS One. 2022; 17(8): e0268031. Published online 2022 Aug 18. doi: 10.1371/journal.pone.0268031
PMCID:
PMC9387794
ArticlePDF–4.4M
7.
Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
Gregorio Serra, Vincenzo Antona, Chiara Cannata, Mario Giuffrè, Ettore Piro, Ingrid Anne Mandy Schierz, Giovanni Corsello
Ital J Pediatr. 2022; 48: 133. Published online 2022 Jul 29. doi: 10.1186/s13052-022-01329-z
PMCID:
PMC9336156
ArticlePDF–990K
8.
Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report
Qing Zhou, Bin Liang, Qing-Xian Fu, Hui Liu, Chao-Chun Zou
Ital J Pediatr. 2022; 48: 123. Published online 2022 Jul 23. doi: 10.1186/s13052-022-01322-6
PMCID:
PMC9308320
ArticlePDF–1.0M
9.
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Miriam S. Reuter, Michael Zech, Maja Hempel, Janine Altmüller, Tracy Heung, Laura Pölsler, René Santer, Holger Thiele, Brett Trost, Christian Kubisch, Stephen W. Scherer, Sabine Rudnik-Schöneborn, Anne S. Bassett, Davor Lessel
Eur J Hum Genet. 2022 May; 30(5): 611–618. Published online 2022 Mar 18. doi: 10.1038/s41431-022-01077-y
PMCID:
PMC9090724
ArticlePDF–1.2M
10.
Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient
Mansour Al Qurashi, Ahmed Mustafa, Syed Sameer Aga, Abrar Ahmad, Abdellatif El-Farra, Aiman Shawli, Mohammed Al Hindi, Mohammed Hasosah
BMC Med Genomics. 2022; 15: 63. Published online 2022 Mar 19. doi: 10.1186/s12920-022-01210-2
PMCID:
PMC8933996
ArticlePDF–1.6M
11.
Study protocol to quantify the genetic architecture of sonographic cervical length and its relationship to spontaneous preterm birth
Hope M Wolf, Roberto Romero, Jerome F Strauss, Sonia S Hassan, Shawn J Latendresse, Bradley T Webb, Adi L Tarca, Nardhy Gomez-Lopez, Chaur-Dong Hsu, Timothy P York
BMJ Open. 2022; 12(3): e053631. Published online 2022 Mar 17. doi: 10.1136/bmjopen-2021-053631
PMCID:
PMC8932269
ArticlePDF–616K
12.
Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients
Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang
Mol Genet Genomic Med. 2022 Mar; 10(3): e1825. Published online 2022 Feb 14. doi: 10.1002/mgg3.1825
PMCID:
PMC8922969
ArticlePDF–1.0M
13.
A reassessment of Jackson’s checklist and identification of two Down syndrome sub-phenotypes
Chiara Locatelli, Sara Onnivello, Caterina Gori, Giuseppe Ramacieri, Francesca Pulina, Chiara Marcolin, Renzo Vianello, Beatrice Vione, Maria Caracausi, Maria Chiara Pelleri, Lorenza Vitale, Gian Luca Pirazzoli, Guido Cocchi, Luigi Corvaglia, Pierluigi Strippoli, Francesca Antonaros, Allison Piovesan, Silvia Lanfranchi
Sci Rep. 2022; 12: 3104. Published online 2022 Feb 24. doi: 10.1038/s41598-022-06984-0
PMCID:
PMC8873406
ArticlePDF–1.0M
14.
A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report
İsmail Balaban, Meltem Ceyhan Bilgici, Kemal Baysal
BMC Pediatr. 2022; 22: 102. Published online 2022 Feb 21. doi: 10.1186/s12887-022-03137-0
PMCID:
PMC8862463
ArticlePDF–1.5M
15.
Identification of novel ACAN mutations in two Chinese families and genotype–phenotype correlation in patients with 74 pathogenic ACAN variations
Ming Wei, Yanqin Ying, Zhuxi Li, Ying Weng, Xiaoping Luo
Mol Genet Genomic Med. 2021 Nov; 9(11): e1823. Published online 2021 Oct 3. doi: 10.1002/mgg3.1823
PMCID:
PMC8606199
ArticlePDF–1.0M
16.
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Roberto Giugliani, Anneliese Lopes Barth, Melissa Rossi Calvão Dumas, José Francisco da Silva Franco, Liane de Rosso Giuliani, Carlos Henrique Paiva Grangeiro, Dafne Dain Gandelman Horovitz, Chong Ae Kim, Emilia Katiane Embiruçu de Araújo Leão, Paula Frassinetti Vasconcelos de Medeiros, Diego Santana Chaves Geraldo Miguel, Maria Espírito Santo Almeida Moreira, Helena Maria Guimarães Pimentel dos Santos, Luiz Carlos Santana da Silva, Luiz Roberto da Silva, Isabel Neves de Souza, Tatiele Nalin, Daniel Garcia
Orphanet J Rare Dis. 2021; 16: 238. Published online 2021 May 22. doi: 10.1186/s13023-021-01870-w
PMCID:
PMC8141134
ArticlePDF–1.1M
17.
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
Laura Castilla-Vallmanya, Kaja K. Selmer, Clémantine Dimartino, Raquel Rabionet, Bernardo Blanco-Sánchez, Sandra Yang, Margot R. F. Reijnders, Antonie J. van Essen, Myriam Oufadem, Magnus D. Vigeland, Barbro Stadheim, Gunnar Houge, Helen Cox, Helen Kingston, Jill Clayton-Smith, Jeffrey W. Innis, Maria Iascone, Anna Cereda, Sara Gabbiadini, Wendy K. Chung, Victoria Sanders, Joel Charrow, Emily Bryant, John Millichap, Antonio Vitobello, Christel Thauvin, Frederic Tran Mau-Them, Laurence Faivre, Gaetan Lesca, Audrey Labalme, Christelle Rougeot, Nicolas Chatron, Damien Sanlaville, Katherine M. Christensen, Amelia Kirby, Raymond Lewandowski, Rachel Gannaway, Maha Aly, Anna Lehman, Lorne Clarke, Luitgard Graul-Neumann, Christiane Zweier, Davor Lessel, Bernarda Lozic, Ingvild Aukrust, Ryan Peretz, Robert Stratton, Thomas Smol, Anne Dieux-Coëslier, Joanna Meira, Elizabeth Wohler, Nara Sobreira, Erin M. Beaver, Jennifer Heeley, Lauren C. Briere, Frances A. High, David A. Sweetser, Melissa A. Walker, Catherine E. Keegan, Parul Jayakar, Marwan Shinawi, Wilhelmina S. Kerstjens-Frederikse, Dawn L. Earl, Victoria M. Siu, Emma Reesor, Tony Yao, Robert A. Hegele, Olena M. Vaske, Shannon Rego, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Kevin A. Shapiro, Brian Wong, Michael J. Gambello, Marie McDonald, Danielle Karlowicz, Roberto Colombo, Alessandro Serretti, Lynn Pais, Anne O’Donnell-Luria, Alison Wray, Simon Sadedin, Belinda Chong, Tiong Y. Tan, John Christodoulou, Susan M. White, Anne Slavotinek, Deborah Barbouth, Dayna Morel Swols, Mélanie Parisot, Christine Bole-Feysot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Megan T. Cho, Valérie Cormier-Daire, Susanna Balcells, Stanislas Lyonnet, Daniel Grinberg, Jeanne Amiel, Roser Urreizti, Christopher T. Gordon
Genet Med. Author manuscript; available in PMC 2021 May 3.
Published in final edited form as: Genet Med. 2020 Jul; 22(7): 1215–1226. Published online 2020 May 7. doi: 10.1038/s41436-020-0792-7
PMCID:
PMC8093014
ArticlePDF–1.0M
18.
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings
In Kyung Lee, Han Hyuk Lim, Yoo-Mi Kim
Yonsei Med J. 2020 Nov 1; 61(11): 981–985. Published online 2020 Oct 22. doi: 10.3349/ymj.2020.61.11.981
PMCID:
PMC7593105
ArticlePDF–683K
19.
Mandibulofacial dysostosis with microcephaly: a syndrome to remember
Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos
BMJ Case Rep. 2019; 12(8): e229831. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229831
PMCID:
PMC6700533
ArticlePDF–266K
20.
First Trimester Circulating MicroRNA Biomarkers Predictive of Subsequent Preterm Delivery and Cervical Shortening
Joanna Cook, Phillip R. Bennett, Sung Hye Kim, Tiong Ghee Teoh, Lynne Sykes, Lindsay M. Kindinger, Alice Garrett, Reem Binkhamis, David A. MacIntyre, Vasso Terzidou
Sci Rep. 2019; 9: 5861. Published online 2019 Apr 10. doi: 10.1038/s41598-019-42166-1
PMCID:
PMC6458157
ArticlePDF–1.1M

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