Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 63 Records) |
Query Trace: Craniosynostosis[original query] |
---|
Genetic associations and phenotypic heterogeneity in the craniosynostotic rabbit. PloS one 2018 9 13 (9): e0204086. Gilbert James R, Losee Joseph E, Mooney Mark P, Cray James J, Gustafson Jennifer, Cunningham Michael L, Cooper Gregory |
Co-occurrence of frameshift mutations in SMAD6 and TCF12 in a child with complex craniosynostosis. Human genome variation 2018 7 5 14. Timberlake Andrew T, Wu Robin, Nelson-Williams Carol, Furey Charuta G, Hildebrand Kristi I, Elton Scott W, Wood Jeyhan S, Persing John A, Lifton Richard |
Dermal fibroblast transcriptome indicates contribution of WNT signaling pathways in the pathogenesis of Apert syndrome. The Turkish journal of pediatrics 2018 7 59 (6): 619-624. Çetinkaya Arda, Ta?k?ran Ekim, Soyer Tutku, ?im?ek-Kiper Pelin Özlem, Utine Gülen Eda, Tunçbilek Gökhan, Boduro?lu Koray, Alika?ifo?lu Mehm |
Coronal craniosynostosis due to TCF12 mutations in patients from Turkey. American journal of medical genetics. Part A 2019 Jul . Yilmaz Elanur, Mihci Ercan, Nur Banu, Alper Ozgul |
Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis. Proceedings of the National Academy of Sciences of the United States of America 2019 7 116 (30): 15116-15121. Timberlake Andrew T, Jin Sheng Chih, Nelson-Williams Carol, Wu Robin, Furey Charuta G, Islam Barira, Haider Shozeb, Loring Erin, Galm Amy, , Steinbacher Derek M, Larysz Dawid, Staffenberg David A, Flores Roberto L, Rodriguez Eduardo D, Boggon Titus J, Persing John A, Lifton Richard |
An Investigation of Brain Functional Connectivity by Form of Craniosynostosis. The Journal of craniofacial surgery 2019 4 30 (6): 1719-1723. Sun Alexander H, Eilbott Jeffrey, Chuang Carolyn, Yang Jenny F, Brooks Eric D, Beckett Joel, Steinbacher Derek M, Pelphrey Kevin, Persing John |
Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy. European journal of human genetics : EJHG 2019 2 27 (7): 1044-1053. Luyckx Ilse, MacCarrick Gretchen, Kempers Marlies, Meester Josephina, Geryl Céline, Rombouts Olivier, Peeters Nils, Claes Charlotte, Boeckx Nele, Sakalihasan Natzi, Jacquinet Adeline, Hoischen Alexander, Vandeweyer Geert, Van Lent Sarah, Saenen Johan, Van Craenenbroeck Emeline, Timmermans Janneke, Duijnhouwer Anthonie, Dietz Harry, Van Laer Lut, Loeys Bart, Verstraeten Ali |
SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis. Plastic and reconstructive surgery 2019 10 145 (1): 117e-125e. Wu Robin T, Timberlake Andrew T, Abraham Paul F, Gabrick Kyle S, Lu Xiaona, Peck Connor J, Sawh-Martinez Rajendra F, Steinbacher Derek M, Alperovich Michael A, Persing John |
Nonsyndromic craniosynostosis: novel coding variants. Pediatric research 2019 1 85 (4): 463-468. Sewda Anshuman, White Sierra R, Erazo Monica, Hao Ke, García-Fructuoso Gemma, Fernández-Rodriguez Ivette, Heuzé Yann, Richtsmeier Joan T, Romitti Paul A, Reva Boris, Jabs Ethylin Wang, Peter In |
Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. The Laryngoscope 2020 9 131 (4): E1349-E1356. Lam Austin S, Liu Carrie C, Deutsch Gail H, Rivera Joshua, Perkins Jonathan A, Holmes Greg, Jabs Ethylin W, Cunningham Michael L, Dahl John |
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun . Calpena Eduardo, Cuellar Araceli, Bala Krithi, Swagemakers Sigrid M A, Koelling Nils, McGowan Simon J, Phipps Julie M, Balasubramanian Meena, Cunningham Michael L, Douzgou Sofia, Lattanzi Wanda, Morton Jenny E V, Shears Deborah, Weber Astrid, Wilson Louise C, Lord Helen, Lester Tracy, Johnson David, Wall Steven A, Twigg Stephen R F, Mathijssen Irene M J, Boardman-Pretty Freya, , Boyadjiev Simeon A, Wilkie Andrew O |
Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis. Bone 2020 Apr 115395. Cuellar Araceli, Bala Krithi, Di Pietro Lorena, Barba Marta, Yagnik Garima, Liu Jia Lie, Stevens Christina, Hur David J, Ingersoll Roxann G, Justice Cristina M, Drissi Hicham, Kim Jinoh, Lattanzi Wanda, Boyadjiev Simeon |
A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Human genetics 2020 Apr . Justice Cristina M, Cuellar Araceli, Bala Krithi, Sabourin Jeremy A, Cunningham Michael L, Crawford Karen, Phipps Julie M, Zhou Yan, Cilliers Deirdre, Byren Jo C, Johnson David, Wall Steven A, Morton Jenny E V, Noons Peter, Sweeney Elizabeth, Weber Astrid, Rees Katie E M, Wilson Louise C, Simeonov Emil, Kaneva Radka, Yaneva Nadezhda, Georgiev Kiril, Bussarsky Assen, Senders Craig, Zwienenberg Marike, Boggan James, Roscioli Tony, Tamburrini Gianpiero, Barba Marta, Conway Kristin, Sheffield Val C, Brody Lawrence, Mills James L, Kay Denise, Sicko Robert J, Langlois Peter H, Tittle Rachel K, Botto Lorenzo D, Jenkins Mary M, LaSalle Janine M, Lattanzi Wanda, Wilkie Andrew O M, Wilson Alexander F, Romitti Paul A, Boyadjiev Simeon A, |
A Pilot Study of Identification Genetic Background of Craniosynostosis Cases. The Journal of craniofacial surgery 2020 11 32 (3): 1059-1062. Atli Emine Ikbal, Yalcintepe Sinem, Atli Engin, Demir Selma, Mail Cisem, Eker Damla, Kalkan Rasime, Gurkan Hak |
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. Congenital anomalies 2021 6 61 (6): 226-230. Yamada Mamiko, Funato Michinori, Kondo Goro, Suzuki Hisato, Uehara Tomoko, Takenouchi Toshiki, Sakamoto Yoshiaki, Kosaki Kenji |
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings. American journal of medical genetics. Part A 2021 5 185 (8): 2455-2463. Mushiba Aziza M, Faqeih Eissa, Saleh Mohammed A, Ramzan Khushnooda, Imtiaz Faiqa, Al-Owain Mohammed, Alhashem Amal M, Alswaid Abdulrahm |
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia. Frontiers in pediatrics 2021 5 9 582816. Alghamdi Malak, Alhumsi Taghreed R, Altweijri Ikhlass, Alkhamis Waleed H, Barasain Omar, Cardona-Londoño Kelly J, Ramakrishnan Reshmi, Guzmán-Vega Francisco J, Arold Stefan T, Ali Ghaida, Adly Nouran, Ali Hebatallah, Basudan Ahmed, Bakhrebah Muhammed |
Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. The Journal of craniofacial surgery 2021 4 32 (Suppl 3): 1263-1268. Kennedy-Williams Patrick, Care Helen, Dalton Louise, Horton Jo, Kearney Anna, Rooney Natasha, Hotton Matthew, Pinckston Molly, Huggons Esme, Culshaw Laura, Kilcoyne Sarah, Johnson David, Wilkie Andrew O M, Wall Stev |
A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra. Journal of genetics and genomics = Yi chuan xue bao 2021 2 48 (2): 167-171. Wu Yingzhi, Peng Meifang, Chen Jieyi, Suo Jinlong, Zou Sihai, Xu Yanqing, Wilkie Andrew O M, Zou Weiguo, Mu Xiongzheng, Wang Sij |
Discussion on Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis. The Journal of craniofacial surgery 2021 2 32 (Suppl 3): 1269. Persing John |
A novel p.Pro871Leu missense mutation in SPECC1L gene causing craniosynostosis in a patient. Orthodontics & craniofacial research 2021 2 24 (4): 480-485. Bai Shanshan, Geng Yingnan, Duan Huichuan, Xu Liang, Yu Zheyuan, Yuan Jie, Wei M |
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of medical genetics 2021 1 59 (2): 165-169. Calpena Eduardo, Wurmser Maud, McGowan Simon J, Atique Rodrigo, Bertola Débora R, Cunningham Michael L, Gustafson Jonas A, Johnson David, Morton Jenny E V, Passos-Bueno Maria Rita, Timberlake Andrew T, Lifton Richard P, Wall Steven A, Twigg Stephen R F, Maire Pascal, Wilkie Andrew O |
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort. Frontiers in genetics 2022 13 967688. Chen Jieyi, Zhang Ping, Peng Meifang, Liu Bo, Wang Xiao, Du Siyuan, Lu Yao, Mu Xiongzheng, Lu Yulan, Wang Sijia, Wu Yingz |
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy. American journal of medical genetics. Part A 2022 7 188 (10): 3071-3077. Walczak-Sztulpa Joanna, Wawrocka Anna, Sikora Weronika, Pawlak Marta, Bukowska-Olech Ewelina, Kopaczewski Bart?omiej, Urzykowska Agnieszka, Arts Heleen H, Gotz-Wi?ckowska Anna, Grenda Ryszard, Latos-Biele?ska Anna, Glazar Rena |
Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis. Genes 2022 5 13 (5): . Justice Cristina M, Musolf Anthony M, Cuellar Araceli, Lattanzi Wanda, Simeonov Emil, Kaneva Radka, Paschall Justin, Cunningham Michael, Wilkie Andrew O M, Wilson Alexander F, Romitti Paul A, Boyadjiev Simeon |
Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis. Plastic and reconstructive surgery 2022 3 149 (5): 1157-1165. Timberlake Andrew T, Junn Alexandra, Flores Roberto, Staffenberg David A, Lifton Richard P, Persing John |
Erratum. Association of novel mutation in TRPV4 with familial nonsyndromic craniosynostosis with complete penetrance and variable expressivity. Journal of neurosurgery. Pediatrics 2023 8 1. Roy W R Dudl |
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance. Genetics in medicine : official journal of the American College of Medical Genetics 2023 5 100883. Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan, Odile Boute, Corinne Collet, David Johnson, Fanny Laffargue, Nicole de Leeuw, Jenny V Morton, Peter Noons, Charlotte W Ockeloen, Julie M Phipps, Tiong Yang Tan, Andrew T Timberlake, Clemence Vanlerberghe, Steven A Wall, Astrid Weber, Louise C Wilson, Elaine H Zackai, Irene M J Mathijssen, Stephen R F Twigg, Andrew O M Wilk |
Quantifying the Impact of Genetics on Neurocognition in Non-Syndromic Sagittal Craniosynostosis. Plastic and reconstructive surgery 2023 3 . Junn Alexandra, Dinis Jacob, Long Aaron, Timberlake Andrew T, Persing John A, Alperovich Micha |
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428. Scientific reports 2024 4 14 (1): 8533. Anthony M Musolf, Cristina M Justice, Zeynep Erdogan-Yildirim, Seppe Goovaerts, Araceli Cuellar, John R Shaffer, Mary L Marazita, Peter Claes, Seth M Weinberg, Jae Li, Craig Senders, Marike Zwienenberg, Emil Simeonov, Radka Kaneva, Tony Roscioli, Lorena Di Pietro, Marta Barba, Wanda Lattanzi, Michael L Cunningham, Paul A Romitti, Simeon A Boyadji |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: