Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 36 Records) |
Query Trace: Polydactyly[original query] |
---|
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human genetics 2011 Oct 130 (4): 495-504. Reis Linda M, Tyler Rebecca C, Schilter Kala F, Abdul-Rahman Omar, Innis Jeffrey W, Kozel Beth A, Schneider Adele S, Bardakjian Tanya M, Lose Edward J, Martin Donna M, Broeckel Ulrich, Semina Elena |
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. Journal of medical genetics 2012 Feb 49 (2): 126-37. Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D |
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism 2013 Mar 98 (3): E567-75. Flemming G M C, Klammt J, Ambler G, Bao Y, Blum W F, Cowell C, Donaghue K, Howard N, Kumar A, Sanchez J, Stobbe H, Pfäffle R |
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome. Clinical genetics 2015 Apr 87 (4): 343-9. Forsythe E, Sparks K, Hoskins B E, Bagkeris E, McGowan B M, Carroll P V, Huda M S B, Mujahid S, Peters C, Barrett T, Mohammed S, Beales P |
Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
[Analysis of HOXD13 gene in polydactyly in dispersion type]. Zhonghua zheng xing wai ke za zhi = Zhonghua zhengxing waike zazhi = Chinese journal of plastic surgery 2015 Jul 31 (4): 255-8. Zhaoliang Liu, Biao Wang, Xiuying Shan, Qicai Liu, Meishui Wang, Houbing Zhe |
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel. Journal of medical genetics 2016 Feb . Al-Hamed Mohamed H, Kurdi Wesam, Alsahan Nada, Alabdullah Zainab, Abudraz Rania, Tulbah Maha, Alnemer Maha, Khan Rubina, Al-Jurayb Haya, Alahmed Ahmed, Tahir Asma I, Khalil Dania, Edwards Noel, Al Abdulaziz Basma, Binhumaid Faisal S, Majid Salma, Faquih Tariq, El-Kalioby Mohamed, Abouelhoda Mohamed, Altassan Nada, Monies Dorota, Meyer Brian, Sayer John A, Albaqumi Mamdo |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. Journal of medical genetics 2017 11 55 (3): 189-197. Y?ld?z Bölükba?? Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Asl?h |
Mutational screening of GLI3, SHH, preZRS, and ZRS in 102 Chinese children with nonsyndromic polydactyly. Developmental dynamics : an official publication of the American Association of Anatomists 2017 Jan . Xiang Ying, Jiang Limin, Wang Bo, Xu Yunlan, Cai Haiqing, Fu Qih |
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC medical genetics 2017 1 18 (1): 4. Negishi Yutaka, Miya Fuyuki, Hattori Ayako, Johmura Yoshikazu, Nakagawa Motoo, Ando Naoki, Hori Ikumi, Togawa Takao, Aoyama Kohei, Ohashi Kei, Fukumura Shinobu, Mizuno Seiji, Umemura Ayako, Kishimoto Yoko, Okamoto Nobuhiko, Kato Mitsuhiro, Tsunoda Tatsuhiko, Yamasaki Mami, Kanemura Yonehiro, Kosaki Kenjiro, Nakanishi Makoto, Saitoh Shin |
Mutational Screening of GLI3, SHH, and SHH ZRS in 78 Chinese Children with Nonsyndromic Polydactyly. Genetic testing and molecular biomarkers 2018 9 22 (9): 577-581. Rao Chunbao, Chen Jiahui, Peng Qi, Mo Qineng, Xia Xiansheng, Lu Xiaom |
[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 8 35 (4): 557-560. Mei Jin, Wang Min, Wang Xiaohua, Yao Ju |
Targeted exome sequencing reveals a novel GLI3 mutation in a Chinese family with nonsyndromic polydactyly. Developmental dynamics : an official publication of the American Association of Anatomists 2019 7 248 (10): 942-947. Zhao Xiangyu, Xu Hongyan, Liu Xiaxia, Li L |
Mutations in the sonic hedgehog pathway cause macrocephaly-associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway. American journal of medical genetics. Part A 2019 10 179 (12): 2517-2531. Klein Steven D, Nguyen Dzung C, Bhakta Viraj, Wong Derek, Chang Vivian Y, Davidson Tom B, Martinez-Agosto Julian |
Short-rib polydactyly syndrome presenting with recurrent severe first-trimester phenotypes: the utility of exome sequencing in deciphering variants of DYNC2H1 gene. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2019 10 40 (6): 874-876. He Yi, Li Yu-Juan, Xu Li-Li, Li Dong-Z |
Polydactyly Patient Carried a Mutation of PTCH1 Which Has Been Identified in Nevoid Basal Cell Nevus Syndrome. DNA and cell biology 2020 7 39 (10): 1754-1759. Cao Ruixue, Liu Sijie, Chai Weiran, Shen Pinqu |
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of human genetics 2020 7 85 (1): 27-36. Gumus Evren, Tuncez Ebru, Oz Ozlem, Saka Guvenc Mer |
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. Clinical genetics 2020 5 98 (2): 166-171. Gouronc Aurélie, Zilliox Vincent, Jacquemont Marie-Line, Darcel Françoise, Leuvrey Anne-Sophie, Nourisson Elsa, Antin Manuela, Alessandri Jean-Luc, Doray Bérénice, Gueguen Paul, Payet Frédérique, Randrianaivo Hanitra, Stoetzel Corinne, Scheidecker Sophie, Flodrops Hugues, Dollfus Hélène, Muller Je |
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome. Clinical genetics 2020 Nov . Delvallée Clarisse, Nicaise Samuel, Antin Manuela, Leuvrey Anne-Sophie, Nourisson Elsa, Leitch Carmen C, Kellaris Georgios, Stoetzel Corinne, Geoffroy Véronique, Scheidecker Sophie, Keren Boris, Depienne Christel, Klar Joakim, Dahl Niklas, Deleuze Jean-François, Génin Emmanuelle, Redon Richard, Demurger Florence, Devriendt Koenraad, Mathieu-Dramard Michèle, Poitou-Bernert Christine, Odent Sylvie, Katsanis Nicholas, Mandel Jean-Louis, Davis Erica E, Dollfus Hélène, Muller Je |
A novel microdeletion upstream of HOXD13 in a Chinese family with synpolydactyly. American journal of medical genetics. Part A 2021 9 188 (1): 31-36. Jia Weimin, Zhou Xiaopei, Guo Naiqiang, Zhang Dazhi, Hou Meiqi, Luo Yalin, Peng Xuejie, Yang Xue, Zhang Xianq |
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals. Journal of medical genetics 2022 8 . Aubert-Mucca Marion, Huber Céline, Baujat Genevieve, Michot Caroline, Zarhrate Mohammed, Bras Marc, Boutaud Lucile, Malan Valérie, Attie-Bitach Tania, , Cormier-Daire Valer |
ZPA Regulatory Sequence Variants in Chinese Patients With Preaxial Polydactyly: Genetic and Clinical Characteristics. Frontiers in pediatrics 2022 6 10 797978. Zeng Lei, Jin Jie-Yuan, Luo Fang-Mei, Sheng Yue, Wu Pan-Feng, Xiang Ro |
De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities. Pediatric neurology 2022 4 131 1-3. Siafa Lyna, Argilli Emanuela, Sherr Elliott H, Myers Kenneth |
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 3 43 (8): 4989-4996. Xing Fu, Du Ju |
New insights into CC2D2A-related Joubert syndrome. Journal of medical genetics 2022 11 . Harion Madeleine, Qebibo Leila, Riquet Audrey, Rougeot Christelle, Afenjar Alexandra, Garel Catherine, Louha Malek, Lacaze Emmanuelle, Audic-Gérard Frédérique, Barth Magali, Berquin Patrick, Bonneau Dominique, Bourdain Frédéric, Busa Tiffany, Colin Estelle, Cuisset Jean-Marie, Des Portes Vincent, Dorison Nathalie, Francannet Christine, Héron Bénédicte, Laroche Cécile, Lebrun Marine, Métreau Julia, Odent Sylvie, Pasquier Laurent, Trujillo Yaumara Perdomo, Perrin Laurine, Pinson Lucile, Rivier François, Sigaudy Sabine, Thauvin-Robinet Christel, Louvier Ulrike Walther, Labayle Olivier, Rodriguez Diana, Valence Stéphanie, Burglen Lyd |
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants. American journal of medical genetics. Part A 2023 6 . Sheraz Khan, Ina Ofelia Foc?a, Magdalena Budi?teanu, Cristina Stoica, Florina Nedelea, Lauren?iu Bohîl?ea, Lavinia Caba, L?cr?mioara Butnariu, Monica Pânzaru, Cristina Rusu, Claudia Jurc?, Adela Chirita-Emandi, Claudia B?nescu, Wasim Abbas, Azita Sadeghpour, Shahid Mahmood Baig, Mihaela B?lgr?dean, Erica E Dav |
Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology. Annals of human genetics 2023 11 . Joshua W Owens, Robert J Hopkin, Lisa J Martin, Andrew Kodani, Brittany N Simps |
The characterization and comorbidities of heterozygous Bardet-Biedl syndrome carriers. International journal of medical sciences 2024 4 21 (5): 784-794. Meng-Hua Li, I-Chieh Chen, Hui-Wen Yang, Hsin-Chien Yen, Yung-Chieh Huang, Chia-Chi Hsu, Yi-Ming Chen, Yu-Yuan |
Whole genome resequencing reveals candidate genes for postaxial polydactyly in Large White pigs. Animal genetics 2024 1 . Yongle Hao, Yunlei Song, Fei Chen, Jianhong Ta |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: