Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 A novel FGF8 mutation in a female patient with isolated congenital anosmia.

Literature DB >> 31087283

A novel FGF8 mutation in a female patient with isolated congenital anosmia.

M I Stamou^1,2,3, L Plummer⁴, V Koika⁵, A Galli-Tsinopoulou⁶, N A Georgopoulos⁵.

Abstract

Entities: Chemical

Mesh：

Substances：

Year: 2019 PMID： 31087283 PMCID： PMC8832634 DOI： 10.1007/s42000-019-00108-6

Source DB: PubMed Journal: Hormones (Athens) ISSN： 1109-3099 Impact factor: 2.885

Keyword Cloud
References

× No keyword cloud information.

23 in total

1. The human genome browser at UCSC.

Authors: W James Kent; Charles W Sugnet; Terrence S Furey; Krishna M Roskin; Tom H Pringle; Alan M Zahler; David Haussler
Journal: Genome Res Date: 2002-06 Impact factor: 9.043

2. Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

Authors: Isabelle Bailleul-Forestier; Catherine Gros; Delphine Zenaty; Sélim Bennaceur; Juliane Leger; Nicolas de Roux
Journal: Int J Paediatr Dent Date: 2010-07 Impact factor: 3.455

3. SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient.

Authors: Petya Bogdanova-Mihaylova; Michael D Alexander; Raymond P J Murphy; Sinéad M Murphy
Journal: J Peripher Nerv Syst Date: 2015-06 Impact factor: 3.494

4. Expanding the phenotype and genotype of female GnRH deficiency.

Authors: Natalie D Shaw; Stephanie B Seminara; Corrine K Welt; Margaret G Au; Lacey Plummer; Virginia A Hughes; Andrew A Dwyer; Kathryn A Martin; Richard Quinton; Veronica Mericq; Paulina M Merino; James F Gusella; William F Crowley; Nelly Pitteloud; Janet E Hall
Journal: J Clin Endocrinol Metab Date: 2011-01-05 Impact factor: 5.958

5. Next-generation sequencing of patients with congenital anosmia.

Authors: Anna Alkelai; Tsviya Olender; Catherine Dode; Sagit Shushan; Pavel Tatarskyy; Edna Furman-Haran; Valery Boyko; Ruth Gross-Isseroff; Matthew Halvorsen; Lior Greenbaum; Roni Milgrom; Kazuya Yamada; Ayumi Haneishi; Ilan Blau; Doron Lancet
Journal: Eur J Hum Genet Date: 2017-11-13 Impact factor: 4.246

A novel FGF8 mutation in a female patient with isolated congenital anosmia.

1. The human genome browser at UCSC.

2. Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.

3. SCN9A-associated congenital insensitivity to pain and anosmia in an Irish patient.

4. Expanding the phenotype and genotype of female GnRH deficiency.

5. Next-generation sequencing of patients with congenital anosmia.

6. Mutations in olfactory signal transduction genes are not a major cause of human congenital general anosmia.

Review 7. Isolated and syndromic forms of congenital anosmia.

8. A role for TENM1 mutations in congenital general anosmia.

9. Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.

10. Programmatic access to bioinformatics tools from EMBL-EBI update: 2017.