265 related articles for article (PubMed ID: 17327381)
1. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.
Pfaeffle RW; Savage JJ; Hunter CS; Palme C; Ahlmann M; Kumar P; Bellone J; Schoenau E; Korsch E; Brämswig JH; Stobbe HM; Blum WF; Rhodes SJ
J Clin Endocrinol Metab; 2007 May; 92(5):1909-19. PubMed ID: 17327381
[TBL] [Abstract][Full Text] [Related]
2. Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.
Bhangoo AP; Hunter CS; Savage JJ; Anhalt H; Pavlakis S; Walvoord EC; Ten S; Rhodes SJ
J Clin Endocrinol Metab; 2006 Mar; 91(3):747-53. PubMed ID: 16394081
[TBL] [Abstract][Full Text] [Related]
3. A novel mutation in the LIM homeobox 3 gene is responsible for combined pituitary hormone deficiency, hearing impairment, and vertebral malformations.
Kriström B; Zdunek AM; Rydh A; Jonsson H; Sehlin P; Escher SA
J Clin Endocrinol Metab; 2009 Apr; 94(4):1154-61. PubMed ID: 19126629
[TBL] [Abstract][Full Text] [Related]
4. Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.
Sloop KW; Walvoord EC; Showalter AD; Pescovitz OH; Rhodes SJ
J Clin Endocrinol Metab; 2000 Aug; 85(8):2701-8. PubMed ID: 10946868
[TBL] [Abstract][Full Text] [Related]
5. Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
Reynaud R; Gueydan M; Saveanu A; Vallette-Kasic S; Enjalbert A; Brue T; Barlier A
J Clin Endocrinol Metab; 2006 Sep; 91(9):3329-36. PubMed ID: 16735499
[TBL] [Abstract][Full Text] [Related]
6. Mutations in the LHX3 gene cause dysregulation of pituitary and neural target genes that reflect patient phenotypes.
Savage JJ; Hunter CS; Clark-Sturm SL; Jacob TM; Pfaeffle RW; Rhodes SJ
Gene; 2007 Oct; 400(1-2):44-51. PubMed ID: 17616267
[TBL] [Abstract][Full Text] [Related]
7. Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
Sobrier ML; Brachet C; Vié-Luton MP; Perez C; Copin B; Legendre M; Heinrichs C; Amselem S
J Clin Endocrinol Metab; 2012 Mar; 97(3):E503-9. PubMed ID: 22238406
[TBL] [Abstract][Full Text] [Related]
8. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
Netchine I; Sobrier ML; Krude H; Schnabel D; Maghnie M; Marcos E; Duriez B; Cacheux V; Moers Av; Goossens M; Grüters A; Amselem S
Nat Genet; 2000 Jun; 25(2):182-6. PubMed ID: 10835633
[TBL] [Abstract][Full Text] [Related]
9. LHX3 transcription factor mutations associated with combined pituitary hormone deficiency impair the activation of pituitary target genes.
Sloop KW; Parker GE; Hanna KR; Wright HA; Rhodes SJ
Gene; 2001 Mar; 265(1-2):61-9. PubMed ID: 11255008
[TBL] [Abstract][Full Text] [Related]
10. A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency.
Bechtold-Dalla Pozza S; Hiedl S; Roeb J; Lohse P; Malik RE; Park S; Durán-Prado M; Rhodes SJ
Horm Res Paediatr; 2012; 77(1):41-51. PubMed ID: 22286346
[TBL] [Abstract][Full Text] [Related]
11. Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.
Agarwal G; Bhatia V; Cook S; Thomas PQ
J Clin Endocrinol Metab; 2000 Dec; 85(12):4556-61. PubMed ID: 11134108
[TBL] [Abstract][Full Text] [Related]
12. Mutations in PROP1 cause familial combined pituitary hormone deficiency.
Wu W; Cogan JD; Pfäffle RW; Dasen JS; Frisch H; O'Connell SM; Flynn SE; Brown MR; Mullis PE; Parks JS; Phillips JA; Rosenfeld MG
Nat Genet; 1998 Feb; 18(2):147-9. PubMed ID: 9462743
[TBL] [Abstract][Full Text] [Related]
13. Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle RW; Hunter CS; Savage JJ; Duran-Prado M; Mullen RD; Neeb ZP; Eiholzer U; Hesse V; Haddad NG; Stobbe HM; Blum WF; Weigel JF; Rhodes SJ
J Clin Endocrinol Metab; 2008 Mar; 93(3):1062-71. PubMed ID: 18073311
[TBL] [Abstract][Full Text] [Related]
14. PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
de Graaff LC; Argente J; Veenma DC; Drent ML; Uitterlinden AG; Hokken-Koelega AC
Horm Res Paediatr; 2010; 73(5):363-71. PubMed ID: 20389107
[TBL] [Abstract][Full Text] [Related]
15. Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
Ramzan K; Bin-Abbas B; Al-Jomaa L; Allam R; Al-Owain M; Imtiaz F
BMC Endocr Disord; 2017 Mar; 17(1):17. PubMed ID: 28302169
[TBL] [Abstract][Full Text] [Related]
16. Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion.
Dateki S; Fukami M; Uematsu A; Kaji M; Iso M; Ono M; Mizota M; Yokoya S; Motomura K; Kinoshita E; Moriuchi H; Ogata T
J Clin Endocrinol Metab; 2010 Aug; 95(8):4043-7. PubMed ID: 20534763
[TBL] [Abstract][Full Text] [Related]
17. Model of pediatric pituitary hormone deficiency separates the endocrine and neural functions of the LHX3 transcription factor in vivo.
Colvin SC; Malik RE; Showalter AD; Sloop KW; Rhodes SJ
Proc Natl Acad Sci U S A; 2011 Jan; 108(1):173-8. PubMed ID: 21149718
[TBL] [Abstract][Full Text] [Related]
18. PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
Lemos MC; Gomes L; Bastos M; Leite V; Limbert E; Carvalho D; Bacelar C; Monteiro M; Fonseca F; Agapito A; Castro JJ; Regateiro FJ; Carvalheiro M
Clin Endocrinol (Oxf); 2006 Oct; 65(4):479-85. PubMed ID: 16984240
[TBL] [Abstract][Full Text] [Related]
19. Pathophysiology of syndromic combined pituitary hormone deficiency due to a LHX3 defect in light of LHX3 and LHX4 expression during early human development.
Sobrier ML; Attié-Bitach T; Netchine I; Encha-Razavi F; Vekemans M; Amselem S
Gene Expr Patterns; 2004 Dec; 5(2):279-84. PubMed ID: 15567726
[TBL] [Abstract][Full Text] [Related]
20. Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
Vieira TC; Dias da Silva MR; Cerutti JM; Brunner E; Borges M; Arnaldi LT; Kopp P; Abucham J
J Clin Endocrinol Metab; 2003 Jan; 88(1):38-44. PubMed ID: 12519826
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
