HuGE Literature Finder
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Records 1-17
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Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Molecular genetics & genomic medicine 2019 Mar e625. Chacon-Camacho Oscar F, Lopez-Moreno Daniel, Morales-Sanchez Martha A, Hofmann Enriqueta, Pacheco-Quito Michelle, Wieland Ilse, Cortes-Gonzalez Vianney, Villanueva-Mendoza Cristina, Zenker Martin, Zenteno Juan Carl |
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Simultaneous detection of barrier- and immune-related gene variations in patients with atopic dermatitis by reverse blot hybridization assay.
Clinical and experimental dermatology 2018 Jan . Yoon N Y, Wang H Y, Jun M, Jung M, Kim D H, Lee N R, Hong K-W, Seo S J, Choi E, Lee J, Lee H, Choi E |
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Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism.
Journal of pediatric endocrinology & metabolism : JPEM 2017 Sep . Aoyama Kohei, Mizuno Haruo, Tanaka Tatsushi, Togawa Takao, Negishi Yutaka, Ohashi Kei, Hori Ikumi, Izawa Masako, Hamajima Takashi, Saitoh Shin |
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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 |
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Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Molecular and cellular endocrinology 2016 12 437 86-96. Quaynor Samuel D, Bosley Maggie E, Duckworth Christina G, Porter Kelsey R, Kim Soo-Hyun, Kim Hyung-Goo, Chorich Lynn P, Sullivan Megan E, Choi Jeong-Hyeon, Cameron Richard S, Layman Lawrence |
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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 |
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Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Experimental biology and medicine (Maywood, N.J.) 2015 Jun . Gu Wei-Jun, Zhang Qian, Wang Ying-Qian, Yang Guo-Qing, Hong Tian-Pei, Zhu Da-Long, Yang Jin-Kui, Ning Guang, Jin Nan, Chen Kang, Zang Li, Wang An-Ping, Du Jin, Wang Xian-Ling, Yang Li-Juan, Ba Jian-Ming, Lv Zhao-Hui, Dou Jing-Tao, Mu Yi-Mi |
Meta-analysis identifies seven susceptibility loci involved in the atopic march.
Nature communications 2015 6 8804. Marenholz Ingo, Esparza-Gordillo Jorge, Rüschendorf Franz, Bauerfeind Anja, Strachan David P, Spycher Ben D, Baurecht Hansjörg, Margaritte-Jeannin Patricia, Sääf Annika, Kerkhof Marjan, Ege Markus, Baltic Svetlana, Matheson Melanie C, Li Jin, Michel Sven, Ang Wei Q, McArdle Wendy, Arnold Andreas, Homuth Georg, Demenais Florence, Bouzigon Emmanuelle, Söderhäll Cilla, Pershagen Göran, de Jongste Johan C, Postma Dirkje S, Braun-Fahrländer Charlotte, Horak Elisabeth, Ogorodova Ludmila M, Puzyrev Valery P, Bragina Elena Yu, Hudson Thomas J, Morin Charles, Duffy David L, Marks Guy B, Robertson Colin F, Montgomery Grant W, Musk Bill, Thompson Philip J, Martin Nicholas G, James Alan, Sleiman Patrick, Toskala Elina, Rodriguez Elke, Fölster-Holst Regina, Franke Andre, Lieb Wolfgang, Gieger Christian, Heinzmann Andrea, Rietschel Ernst, Keil Thomas, Cichon Sven, Nöthen Markus M, Pennell Craig E, Sly Peter D, Schmidt Carsten O, Matanovic Anja, Schneider Valentin, Heinig Matthias, Hübner Norbert, Holt Patrick G, Lau Susanne, Kabesch Michael, Weidinger Stefan, Hakonarson Hakon, Ferreira Manuel A R, Laprise Catherine, Freidin Maxim B, Genuneit Jon, Koppelman Gerard H, Melén Erik, Dizier Marie-Hélène, Henderson A John, Lee Young |
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[Children with idiopathic hypogonadotropic hypogonadism: clinical data analysis and mutations analysis of KAL1 and FGFR1 gene].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2014 Dec 52 (12): 942-7. Qin Miao, Gong Chunxiu, Qi Zhan, Wu Di, Liu Min, Gu Yi, Cao Bingyan, Li Wenjing, Liang Xuej |
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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 |
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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 |
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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 |
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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Pediatrics 2010 Aug 126 (2): e391-400. Wilkie Andrew O M, Byren Jo C, Hurst Jane A, Jayamohan Jayaratnam, Johnson David, Knight Samantha J L, Lester Tracy, Richards Peter G, Twigg Stephen R F, Wall Steven |
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Screening of autosomal gene deletions in patients with hypogonadotropic hypogonadism using multiplex ligation-dependent probe amplification: detection of a hemizygosis for the fibroblast growth factor receptor 1.
Clinical endocrinology 2010 Mar 72 (3): 371-6. Trarbach Ericka Barbosa, Teles Milena Gurgel, Costa Elaine Maria Frade, Abreu Ana Paula, Garmes Heraldo Mendes, Guerra Gil, Baptista Maria Tereza Matias, de Castro Margaret, Mendonca Berenice Bilharinho, Latronico Ana Claud |
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Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome.
The Journal of clinical endocrinology and metabolism 2008 Oct 93 (10): 4113-8. Abreu Ana Paula, Trarbach Ericka Barbosa, de Castro Margaret, Frade Costa Elaine Maria, Versiani Beatriz, Matias Baptista Maria Tereza, Garmes Heraldo Mendes, Mendonca Berenice Bilharinho, Latronico Ana Claud |
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Analysis of SPINK 5, KLK 7 and FLG genotypes in a French atopic dermatitis cohort.
Acta dermato-venereologica 2007 87 (6): 499-505. Hubiche Thomas, Ged Cécile, Benard Antoine, Léauté-Labrèze Christine, McElreavey Ken, de Verneuil Hubert, Taïeb Alain, Boralevi Fran |
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Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.
Journal of andrology 0 30 (1): 41-5. Canto P, Munguía P, Söderlund D, Castro J J, Méndez J |
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- Page last updated:Dec 5, 2019
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