Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Pendred síndrome")

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 120

  • Page / 5
Export

Selection :

  • and

Management of goitre in Pendred's syndromeAL-JABERI, T. M; HUSSEIN, A. D; HEIS, H. A et al.British journal of surgery. 1994, Vol 81, Num 10, issn 0007-1323, p. 1511Article

Thyroid function in patients with Pendred's syndromeFRIIS, J; JOHNSEN, T; FELDT-RASMUSSEN, U et al.Journal of endocrinological investigation (Testo stampato). 1988, Vol 11, Num 2, pp 97-101, issn 0391-4097Article

Pendred syndrome : 100 years of underascertainment?REARDON, W; COFFEY, R; PHELPS, P. D et al.QJM (Oxford. 1994. Print). 1997, Vol 90, Num 7, pp 443-447, issn 1460-2725Article

Diagnose und Therapie des Pendred-Syndroms = Diagnosis and therapy of the Pendred-syndromeKRAFT, E; ZOROWKA, P; HEINEMANN, M et al.Sprache, Stimme. Gehör. 1991, Vol 15, Num 2, pp 45-47, issn 0342-0477Article

Pendred's syndromeHASAN, S. A; FARUQI, N. A; ASHRAF, S. M et al.Journal of the Indian Medical Association. 1986, Vol 84, Num 2, pp 58-59, issn 0019-5847Article

Novel Splice-Site Mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 Gene Causing Pendred Syndrome in a Consanguineous Portuguese FamilySIMOES-TEIXEIRA, Helena; MATOS, Tiago D; DEL CASTILLO, Ignacio et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 924-927, issn 1552-4825, 4 p.Article

Goitre and hearing impairment in a patient with Pendred syndromeARWERT, L. I; SEPERS, J. M.Netherlands journal of medicine. 2008, Vol 66, Num 3, pp 118-120, issn 0300-2977, 3 p.Article

Pendred syndrome and iodide transport in the thyroidKOPP, Peter; PESCE, Liuska; SOLIS-S, Juan Carlos et al.Trends in endocrinology and metabolism. 2008, Vol 19, Num 7, pp 260-268, issn 1043-2760, 9 p.Article

Surprising news : a putative sulfate transporter is defective in Pendred's syndromeRUTISHAUSER, J; KOPP, P.European journal of endocrinology. 1998, Vol 138, Num 6, pp 623-624, issn 0804-4643Article

Pendred's syndrome : a study of patients and relativesJAMAL, M. N; ARNAOUT, M. A; RIBHI JARRAR et al.The Annals of otology, rhinology & laryngology. 1995, Vol 104, Num 12, pp 957-962, issn 0003-4894Article

The perchlorate discharge test with and without supplement of potassium iodideFRIIS, J.Journal of endocrinological investigation (Testo stampato). 1987, Vol 10, Num 6, pp 581-584, issn 0391-4097Article

Syndrome de Pendred en TunisieCHARFEDDINE, I; MNEJJA, M; HAMMAMI, B et al.Annales françaises d'oto-rhino-laryngologie et de pathologie cervico-faciale (Print). 2010, Vol 127, Num 1, pp 7-11, issn 1879-7261, 5 p.Article

Distribution of pendrin in the organ of Corti of mice observed by electron immunomicroscopyYOSHINO, Takahiko; SATO, Eisuke; NAKASHIMA, Tsutomu et al.European archives of oto-rhino-laryngology. 2006, Vol 263, Num 8, pp 699-704, issn 0937-4477, 6 p.Article

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutationsPRASAD, Sai; KÖLLN, Karen A; CUCCI, Robert A et al.American journal of medical genetics. 2004, Vol 124A, Num 1, pp 1-9, issn 0148-7299, 9 p.Article

Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndromeEVERETT, Lorraine A; BELYANTSEVA, Inna A; NOBEN-TRAUTH, Konrad et al.Human molecular genetics (Print). 2001, Vol 10, Num 2, pp 153-161, issn 0964-6906Article

Pendred's syndromeVINEET BHANDARI; UDAY KUMAR; MEENU SINGH et al.Indian pediatrics. 1993, Vol 30, Num 3, pp 358-361, issn 0019-6061Article

A Patient With Pendred Syndrome Whose Goiter Progressed With Normal Serum Thyrotropin and Iodine OrganificationASAKURA, Yumi; NARUMI, Satoshi; MUROYA, Koji et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 7, pp 1793-1797, issn 1552-4825, 5 p.Article

The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueductMADDEN, Colm; HALSTED, Mark; SMITH, Richard et al.Archives of otolaryngology, head & neck surgery. 2007, Vol 133, Num 2, pp 162-168, issn 0886-4470, 7 p.Article

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that pendred syndrome and non-syndromic EVA are distinct clinical and genetic entitiesPRYOR, S. P; MADEO, A. C; GRIFFITH, A. J et al.Journal of medical genetics. 2005, Vol 42, Num 2, pp 159-165, issn 0022-2593, 7 p.Article

Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in JapaneseTSUKAMOTO, Koji; SUZUKI, Hiroaki; HARADA, Daisuke et al.European journal of human genetics. 2003, Vol 11, Num 12, pp 916-922, issn 1018-4813, 7 p.Article

Pendrin does not increase sulfate uptake in mammalian COS-7 cellsBOGAZZI, F; BARTALENA, L; RAGGI, F et al.Journal of endocrinological investigation (Testo stampato). 2000, Vol 23, Num 3, pp 170-172, issn 0391-4097Article

Prevalence, age of onset, and natural history of thyroid disease in Pendred syndromeREARDON, W; COFFEY, R; CHOWDHURY, T et al.Journal of medical genetics. 1999, Vol 36, Num 8, pp 595-598, issn 0022-2593Article

The association of thyroid dyshormonogenesis and deafness (Pendred syndrome) : experience of the Victorian Neonatal Thyroid Screening ProgrammeCOAKLEY, J. C; KEIR, E. H; CONNELLY, J. F et al.Journal of paediatrics and child health. 1992, Vol 28, Num 5, pp 398-401, issn 1034-4810Article

Intrafamilial variability of the deafness and goiter phenotype in pendred syndrome caused by a T416P mutation in the SLC26A4 geneNAPIONTEK, Ulrike; BORCK, Guntram; MÜLLER-FORELL, Wiebke et al.The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 11, pp 5347-5351, issn 0021-972X, 5 p.Article

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndromeROTMAN-PIKIELNY, Pnina; HIRSCHBERG, Koret; MARUVADA, Padma et al.Human molecular genetics (Print). 2002, Vol 11, Num 21, pp 2625-2633, issn 0964-6906Article

  • Page / 5