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Items: 1 to 20 of 500

1.
Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
Patricia MP Reis, Jorge Faber, Jéssica SO Rosa, Mike Bueno, Maurício Barriviera, Érica N Lia
Int J Clin Pediatr Dent. 2023 Jan-Feb; 16(1): 147–152. doi: 10.5005/jp-journals-10005-2498
PMCID:
PMC10067985
ArticlePubReaderPDF–48MCite
2.
Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1
Sachiko Kobayashi, Junpei Tanigawa, Hidehito Kondo, Shin Nabatame, Azusa Maruoka, Hiroyuki Sho, Kazuko Tanikawa, Ryoko Inui, Michio Otsuki, Iichiro Shimomura, Keiichi Ozono, Kunihiko Hashimoto
J Endocr Soc. 2020 May 1; 4(5): bvaa041. Published online 2020 Apr 2. doi: 10.1210/jendso/bvaa041
PMCID:
PMC7192098
ArticlePubReaderPDF–312KCite
3.
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori
Eur J Hum Genet. 2019 Jul; 27(7): 1113–1120. Published online 2019 Feb 20. doi: 10.1038/s41431-019-0350-4
PMCID:
PMC6777633
ArticlePubReaderPDF–1.1MCite
4.
Novel heterozygous mutation in the extracellular domain of FGFR1 associated with Hartsfield syndrome
Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa
Hum Genome Var. 2016; 3: 16034. Published online 2016 Oct 13. doi: 10.1038/hgv.2016.34
PMCID:
PMC5061861
ArticlePubReaderPDF–880KCite
5.
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
Nicolas Simonis, Isabelle Migeotte, Nelle Lambert, Camille Perazzolo, Deepthi C de Silva, Boyan Dimitrov, Claudine Heinrichs, Sandra Janssens, Bronwyn Kerr, Geert Mortier, Guy Van Vliet, Philippe Lepage, Georges Casimir, Marc Abramowicz, Guillaume Smits, Catheline Vilain
J Med Genet. 2013 Sep; 50(9): 585–592. Published online 2013 Jun 28. doi: 10.1136/jmedgenet-2013-101603
PMCID:
PMC3756455
ArticlePubReaderPDF–2.0MCite
6.
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
L.A. Lansdon, H.V. Bernabe, N. Nidey, J. Standley, M.J. Schnieders, J.C. Murray
J Dent Res. 2017 Oct; 96(11): 1339–1345. Published online 2017 Aug 21. doi: 10.1177/0022034517726496
PMCID:
PMC5613887
ArticlePubReaderPDF–670KCite
7.
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
Sungkook Hong, Ping Hu, Juliana Marino, Sophia B. Hufnagel, Robert J. Hopkin, Alma Toromanović, Antonio Richieri-Costa, Lucilene A. Ribeiro-Bicudo, Paul Kruszka, Erich Roessler, Maximilian Muenke
Hum Mol Genet. 2016 May 15; 25(10): 1912–1922. Published online 2016 Feb 29. doi: 10.1093/hmg/ddw064
PMCID:
PMC5062582
ArticlePubReaderPDF–804KCite
8.
Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene
Anna Sowińska-Seidler, Monika Piwecka, Ewelina Olech, Magdalena Socha, Anna Latos-Bieleńska, Aleksander Jamsheer
J Appl Genet. 2015; 56(2): 177–184. Published online 2014 Oct 23. doi: 10.1007/s13353-014-0252-7
PMCID:
PMC4412513
ArticlePubReaderPDF–910KCite
9.
Change of the vaginal microbiome with oral contraceptive therapy in women with polycystic ovary syndrome: a 6-month longitudinal cohort study
Xiang Hong, Pengfei Qin, Liting Gao, Lingling Huang, Yong Shi, Danhong Peng, Bei Wang
BMC Med. 2023; 21: 478. Published online 2023 Dec 1. doi: 10.1186/s12916-023-03196-9
PMCID:
PMC10693170
ArticlePubReaderPDF–4.1MCite
10.
Neutralization of SARS-CoV-2 Omicron BQ.1, BQ.1.1 and XBB.1 variants following SARS-CoV-2 infection or vaccination in children
Lorenza Bellusci, Gabrielle Grubbs, Shaimaa Sait, Lael M. Yonker, Adrienne G. Randolph, Tanya Novak, Takuma Kobayashi, Overcoming COVID−19 Investigators, Surender Khurana
Nat Commun. 2023; 14: 7952. Published online 2023 Dec 1. doi: 10.1038/s41467-023-43152-y
PMCID:
PMC10692185
ArticlePubReaderPDF–2.2MCite
11.
A novel pathogenic mutation of MeCP2 impairs chromatin association independent of protein levels
Jian Zhou, Claudia Cattoglio, Yingyao Shao, Harini P. Tirumala, Carlo Vetralla, Sameer S. Bajikar, Yan Li, Hu Chen, Qi Wang, Zhenyu Wu, Bing Tang, Mahla Zahabiyon, Aleksandar Bajic, Xiangling Meng, Jack J. Ferrie, Anel LaGrone, Ping Zhang, Jean J. Kim, Jianrong Tang, Zhandong Liu, Xavier Darzacq, Nathaniel Heintz, Robert Tjian, Huda Y. Zoghbi
Genes Dev. 2023 Oct 1; 37(19-20): 883–900. doi: 10.1101/gad.350733.123
PMCID:
PMC10691473
ArticlePubReaderPDF–5.7MCite
12.
ADAR1 Zα domain P195A mutation activates the MDA5-dependent RNA-sensing signaling pathway in brain without decreasing overall RNA editing
Xinfeng Guo, Silvia Liu, Yi Sheng, Mazen Zenati, Timothy Billiar, Alan Herbert, Qingde Wang
Cell Rep. Author manuscript; available in PMC 2023 Dec 1.
Published in final edited form as: Cell Rep. 2023 Jul 25; 42(7): 112733. Published online 2023 Jul 6. doi: 10.1016/j.celrep.2023.112733
PMCID:
PMC10691306
ArticlePubReaderPDF–2.3MCite
13.
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang
Orphanet J Rare Dis. 2023; 18: 371. Published online 2023 Nov 30. doi: 10.1186/s13023-023-02975-0
PMCID:
PMC10691085
ArticlePubReaderPDF–1.5MCite
14.
An Italian case series' description of thiamine responsive megaloblastic anemia syndrome: importance of early diagnosis and treatment
Francesca Di Candia, Valentina Di Iorio, Nadia Tinto, Riccardo Bonfanti, Claudio Iovino, Francesco Maria Rosanio, Ludovica Fedi, Fernanda Iafusco, Francesca Arrigoni, Rita Malesci, Francesca Simonelli, Andrea Rigamonti, Adriana Franzese, Enza Mozzillo
Ital J Pediatr. 2023; 49: 158. Published online 2023 Nov 30. doi: 10.1186/s13052-023-01553-1
PMCID:
PMC10691017
ArticlePubReaderPDF–1.0MCite
15.
Integrated analysis of microRNA and mRNA expression profiles in Preeclampsia
Zepeng Ping, Ying Feng, Ying Lu, Ling Ai, Huling Jiang
BMC Med Genomics. 2023; 16: 309. Published online 2023 Dec 1. doi: 10.1186/s12920-023-01740-3
PMCID:
PMC10691005
ArticlePubReaderPDF–2.3MCite
16.
Haploidentical donor hematopoietic cell transplantation for myelodysplastic/myeloproliferative overlap neoplasms: results from a North American collaboration
Tania Jain, Hua-Ling Tsai, Hany Elmariah, Pankit Vachhani, Theodoros Karantanos, Sarah A. Wall, Lukasz P. Gondek, Asad Bashey, Alla Keyzner, Roni Tamari, Michael R. Grunwald, Sameem Abedin, Kalyan V. G. Nadiminti, Madiha Iqbal, Aaron T. Gerds, Auro Viswabandya, Shannon R. McCurdy, Monzr M. Al Malki, Ravi Varadhan, Haris Ali, Vikas Gupta, Richard J. Jones, Salman Otoukesh
Haematologica. 2023 Dec 1; 108(12): 3321–3332. Published online 2023 Jul 6. doi: 10.3324/haematol.2023.283426
PMCID:
PMC10690921
ArticlePubReaderPDF–963KCite
17.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
ArticlePubReaderPDF–487KCite
18.
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu
Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811
PMCID:
PMC10690684
ArticlePubReaderPDF–4.6MCite
19.
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review
Alice Dainelli, Michele Iacomino, Sara Rossato, Samuela Bugin, Monica Traverso, Mariasavina Severino, Stefano Gustincich, Valeria Capra, Marco Di Duca, Federico Zara, Marcello Scala, Pasquale Striano
Epilepsia Open. 2023 Dec; 8(4): 1314–1330. Published online 2023 Sep 1. doi: 10.1002/epi4.12798
PMCID:
PMC10690669
ArticlePubReaderPDF–2.9MCite
20.
Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
Xiaoping Du, Shizhong Lian, Meizhen Sun, Ruilong Li, Huifang Wang, Xiaoping Yang, Huifen Wang, Xiaobin Zhang, Fengpeng Wang, Yi Yao, Junhong Guo
Epilepsia Open. 2023 Dec; 8(4): 1576–1580. Published online 2023 Oct 6. doi: 10.1002/epi4.12780
PMCID:
PMC10690644
ArticlePubReaderPDF–669KCite

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