Human Genome Epidemiology Literature Finder
Records 1 - 25 (of 25 Records) |
Query Trace: FGF8[original query] |
---|
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. European journal of human genetics : EJHG 2007 Apr 15 (4): 405-10. Beleza-Meireles Ana, Lundberg Fredrik, Lagerstedt Kristina, Zhou Xiaolei, Omrani Davood, Frisén Louise, Nordenskjöld Agne |
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Human genetics 2010 1 127 (4): 421-40. Rosenfeld Jill A, Ballif Blake C, Martin Donna M, Aylsworth Arthur S, Bejjani Bassem A, Torchia Beth S, Shaffer Lisa |
Evaluation of genes involved in limb development, angiogenesis, and coagulation as risk factors for congenital limb deficiencies. American journal of medical genetics. Part A 2012 Oct 158A (10): 2463-72. Browne Marilyn L, Carter Tonia C, Kay Denise M, Kuehn Devon, Brody Lawrence C, Romitti Paul A, Liu Aiyi, Caggana Michele, Druschel Charlotte M, Mills James |
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. The Journal of clinical endocrinology and metabolism 2012 Feb . Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N |
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. European journal of endocrinology / European Federation of Endocrine Societies 2013 Dec 169 (6): 805-9. Sarfati Julie, Fouveaut Corinne, Leroy Chrystel, Jeanpierre Marc, Hardelin Jean-Pierre, Dodé Catheri |
Hypospadias and genes related to genital tubercle and early urethral development. The Journal of urology 2013 Nov 190 (5): 1884-92. Carmichael Suzan L, Ma Chen, Choudhry Shweta, Lammer Edward J, Witte John S, Shaw Gary |
Chiari malformation type I: a case-control association study of 58 developmental genes. PloS one 2013 8 (2): e57241. Urbizu Aintzane, Toma Claudio, Poca Maria A, Sahuquillo Juan, Cuenca-León Ester, Cormand Bru, Macaya Alfo |
Heterozygous FGF8 mutations in patients presenting cryptorchidism and multiple VATER/VACTERL features without limb anomalies. Birth defects research. Part A, Clinical and molecular teratology 2014 Oct 100 (10): 750-9. Zeidler Claudia, Woelfle Joachim, Draaken Markus, Mughal Sadaf S, Große Greta, Hilger Alina C, Dworschak Gabriel C, Boemers Thomas M, Jenetzky Ekkehart, Zwink Nadine, Lacher Martin, Schmidt Dominik, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Holland-Cunz Stefan, Schäfer Mattias, Bartels Enrika, Keppler Kathleen, Palta Markus, Leonhardt Johannes, Kujath Christina, Rißmann Anke, Nöthen Markus M, Reutter Heiko, Ludwig Micha |
Genetics of congenital hypogonadotropic hypogonadism in Denmark. European journal of medical genetics 2014 Jul 57 (7): 345-8. Tommiska Johanna, Känsäkoski Johanna, Christiansen Peter, Jørgensen Niels, Lawaetz Jacob Gerner, Juul Anders, Raivio Tane |
Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. Journal of human genetics 2015 Jan 60 (1): 17-25. Simioni Milena, Araujo Tânia Kawasaki, Monlleo Isabella Lopes, Maurer-Morelli Cláudia Vianna, Gil-da-Silva-Lopes Vera Lúc |
Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians. Clinical endocrinology 2015 Dec . Nair Sandhya, Jadhav Swati, Lila Anurag, Jagtap Varsha, Bukan Amol, Pandit Reshma, Ekbote Alka, Dharmalingam Mala, Kumar Prasanna, Kalra Pramila, Gandhi Pramod, Walia Rama, Sankhe Shilpa, Raghavan Vijaya, Shivane Vyankatesh, Menon Padma, Bandgar Tushar, Shah Nali |
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. BMC medical genetics 2016 17 (1): 59. Peng Hsiu-Huei, Chang Nai-Chung, Chen Kuo-Ting, Lu Jang-Jih, Chang Pi-Yueh, Chang Shih-Cheng, Wu-Chou Yah-Huei, Chou Yi-Ting, Phang Wanni, Cheng Po-J |
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway. Human mutation 2016 Jul . Dubourg Christèle, Carré Wilfrid, Hamdi-Rozé Houda, Mouden Charlotte, Roume Joëlle, Abdelmajid Benmansour, Amram Daniel, Baumann Clarisse, Chassaing Nicolas, Coubes Christine, Faivre-Olivier Laurence, Ginglinger Emmanuelle, Gonzales Marie, Levy-Mozziconacci Annie, Lynch Sally-Ann, Naudion Sophie, Pasquier Laurent, Poidvin Amélie, Prieur Fabienne, Sarda Pierre, Toutain Annick, Dupé Valérie, Akloul Linda, Odent Sylvie, de Tayrac Marie, David Véroniq |
Identification of Rare Variants in Metabolites of the Carnitine Pathway by Whole Genome Sequencing Analysis. Genetic epidemiology 2016 Jun . Yazdani Akram, Yazdani Azam, Liu Xiaoming, Boerwinkle Er |
Variants in genes belonging to the fibroblast growth factor family are associated with lower extremity amputation in non-Hispanic whites: Findings from the chronic renal insufficiency cohort study. Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair Society 2016 May . Gupta Jayanta, Mitra Nandita, Townsend Raymond R, Fischer Michael, Schelling Jeffrey R, Margolis David |
Left-Right Axis Differentiation and Functional Lateralization: a Haplotype in the Methyltransferase Encoding Gene SETDB2 Might Mediate Handedness in Healthy Adults. Molecular neurobiology 2015 Nov . Ocklenburg Sebastian, Arning Larissa, Gerding Wanda M, Hengstler Jan G, Epplen Jörg T, Güntürkün Onur, Beste Christian, Akkad Denis |
Candidate gene analyses of 3-dimensional dentoalveolar phenotypes in subjects with malocclusion. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 2017 Mar 151 (3): 539-558. Weaver Cole A, Miller Steven F, da Fontoura Clarissa S G, Wehby George L, Amendt Brad A, Holton Nathan E, Allareddy Veeratrishul, Southard Thomas E, Moreno Uribe Lina |
Clinical Phenotypes Associated to Engrailed 2 Gene Alterations in a Series of Neuropediatric Patients. Frontiers in neuroanatomy 2018 8 12 61. Carratala-Marco Francisco, Andreo-Lillo Patricia, Martinez-Morga Marta, Escamez-Martínez Teresa, Botella-López Arancha, Bueno Carlos, Martinez Salvad |
Exploring the interaction between FGF Genes and T-box genes among chinese nonsyndromic cleft lip with or without cleft palate case-parent trios. Environmental and molecular mutagenesis 2019 Mar . Li Wenyong, Wang Mengying, Zhou Ren, Wang Siyue, Zheng Hongchen, Liu Dongjing, Zhou Zhibo, Zhu Hongping, Wu Tao, Beaty Terri |
Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism. Fertility and sterility 2019 11 113 (1): 158-166. Men Meichao, Wu Jiayu, Zhao Yaguang, Xing Xiaoliang, Jiang Fang, Zheng Ruizhi, Li Jia- |
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism. Journal of medical genetics 2020 5 58 (1): 66-72. Men Meichao, Wang Xinying, Wu Jiayu, Zeng Wang, Jiang Fang, Zheng Ruizhi, Li Jia- |
The Classification of VACTERL Association into 3 Groups According to the Limb Defect. Plastic and reconstructive surgery. Global open 2021 3 9 (2): e3360. Al-Qattan Mohammad |
Concomitant genetic defects potentiate the adverse impact of prenatal alcohol exposure on cardiac outflow tract maturation. Birth defects research 2021 12 114 (3-4): 105-115. Harvey Drayton C, De Zoysa Prashan, Toubat Omar, Choi Jongkyu, Kishore Jahnavi, Tsukamoto Hidekazu, Kumar S R |
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review. Clinical endocrinology 2022 9 97 (6): 804-813. Patil Virendra A, Lila Anurag Ranjan, Shah Nalini, Arya Sneha, Sarathi Vijaya, Shah Ravikumar, Jadhav Swati S, Memon Saba Samad, Karlekar Manjiri, Bandgar Tush |
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing. Molecular genetics and genomics : MGG 2022 Jul . D?browska Justyna, Biedziak Barbara, Szponar-?urowska Anna, Budner Margareta, Jagodzi?ski Pawe? P, P?oski Rafa?, Mostowska Adrian |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: