| 1 |
Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency. ( 29261175
)
|
Simm F....Rappold G.A.
|
2017 |
| 2 |
Pulsatile GnRH Therapy May Restore Hypothalamus-Pituitary-Testis Axis Function in Patients With Congenital Combined Pituitary Hormone Deficiency: A Prospective, Self-Controlled Trial. ( 28368486
)
|
Zheng J....Wu X.
|
2017 |
| 3 |
Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome. ( 28443260
)
|
Lee S.S....Suh B.K.
|
2017 |
| 4 |
Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst. ( 28500832
)
|
Uppal S....Stratakis C.A.
|
2017 |
| 5 |
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes. ( 28356564
)
|
Bertko E....PfAoffle R.
|
2017 |
| 6 |
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss. ( 28302169
)
|
Ramzan K....Imtiaz F.
|
2017 |
| 7 |
Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency. ( 29107171
)
|
Cerbone M....Dattani M.T.
|
2017 |
| 8 |
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations. ( 28734020
)
|
Madeira J.L....Carvalho L.R.
|
2017 |
| 9 |
A newborn with combined pituitary hormone deficiency developing shock and sludge. ( 29176025
)
|
Ueda Y....Tajima T.
|
2017 |
| 10 |
A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy. ( 29026274
)
|
Wada K....Taketani T.
|
2017 |
| 11 |
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. ( 27828722
)
|
Fang Q....Camper S.A.
|
2016 |
| 12 |
A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. ( 26781211
)
|
Takagi M....Hasegawa T.
|
2016 |
| 13 |
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. ( 27756091
)
|
Birla S....Sharma A.
|
2016 |
| 14 |
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency. ( 27885216
)
|
Takagi M....Hasegawa T.
|
2016 |
| 15 |
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt. ( 26970862
)
|
Ziemnicka K....RuchaA8a M.
|
2016 |
| 16 |
Genetic causes of isolated and combined pituitary hormone deficiency. ( 27974184
)
|
Giordano M.
|
2016 |
| 17 |
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency. ( 26733480
)
|
Castinetti F....Brue T.
|
2016 |
| 18 |
A Novel Mutation in OTX2 Causes Combined Pituitary Hormone Deficiency, Bilateral Microphthalmia, and Agenesis of the Left Internal Carotid Artery. ( 27299576
)
|
Shimada A....Hasegawa Y.
|
2016 |
| 19 |
Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. ( 26608600
)
|
Ziemnicka K....RuchaA8a M.
|
2015 |
| 20 |
Circulating microRNA profiles and the identification of miR-593 and miR-511 which directly target the PROP1 gene in children with combined pituitary hormone deficiency. ( 25434367
)
|
Hu Y....Li G.
|
2015 |
| 21 |
Novel Mutations in HESX1 and PROP1 Genes in Combined Pituitary Hormone Deficiency. ( 26111865
)
|
Avbelj Stefanija M....TrebuA!ak PodkrajA!ek K.
|
2015 |
| 22 |
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. ( 26147833
)
|
De Rienzo F....Giordano M.
|
2015 |
| 23 |
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients. ( 26141714
)
|
Mao J....Wu X.
|
2015 |
| 24 |
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations. ( 26059845
)
|
Dusatkova P....Lebl J.
|
2015 |
| 25 |
Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation. ( 25678757
)
|
Asakura Y....Adachi M.
|
2015 |
| 26 |
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study. ( 25500790
)
|
BaA9 F....Bundak R.
|
2014 |
| 27 |
Multiple cutaneous hemangiomas in a patient with combined pituitary hormone deficiency. ( 24025721
)
|
Aykut A....Ozkinay F.
|
2014 |
| 28 |
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. ( 25315032
)
|
Otto A.P....Jorge A.A.
|
2014 |
| 29 |
A novel KAL1 mutation is associated with combined pituitary hormone deficiency. ( 27081504
)
|
Takagi M....Hasegawa T.
|
2014 |
| 30 |
Combined pituitary hormone deficiency: current and future status. ( 25200994
)
|
Castinetti F....Brue T.
|
2014 |
| 31 |
Single-nucleotide variants in two Hedgehog genes, SHH and HHIP, as genetic cause of combined pituitary hormone deficiency. ( 22897141
)
|
Gorbenko del Blanco D....Hokken-Koelega A.C.
|
2013 |
| 32 |
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3. ( 24346842
)
|
Takagi M....Hasegawa T.
|
2013 |
| 33 |
Developmental analysis and influence of genetic background on the Lhx3 W227ter mouse model of combined pituitary hormone deficiency disease. ( 23288907
)
|
Prince K.L....Rhodes S.J.
|
2013 |
| 34 |
Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. ( 23657145
)
|
Fukami M....Ogata T.
|
2013 |
| 35 |
Genetic analyses of bone morphogenetic protein 2, 4 and 7 in congenital combined pituitary hormone deficiency. ( 24289245
)
|
Breitfeld J....TAPnjes A.
|
2013 |
| 36 |
Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report. ( 22797803
)
|
Lamine F....Slimane H.
|
2012 |
| 37 |
A recessive mutation resulting in a disabling amino acid substitution (T194R) in the LHX3 homeodomain causes combined pituitary hormone deficiency. ( 22286346
)
|
Bechtold-Dalla Pozza S....Rhodes S.J.
|
2012 |
| 38 |
Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations. ( 22238406
)
|
Sobrier M.L....Amselem S.
|
2012 |
| 39 |
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency. ( 22010633
)
|
Turton J.P....Le Tissier P.
|
2012 |
| 40 |
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. ( 22319038
)
|
Raivio T....Pitteloud N.
|
2012 |
| 41 |
Frequency of mutations in PROP-1 gene in Turkish children with combined pituitary hormone deficiency. ( 23692781
)
|
Kandemir N....YA+lmaz E.
|
2012 |
| 42 |
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency. ( 21722153
)
|
Inoue H....Fujieda K.
|
2012 |
| 43 |
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve. ( 22715480
)
|
Gorbenko del Blanco D....Hokken-Koelega A.C.
|
2012 |
| 44 |
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood. ( 21521297
)
|
Tenenbaum-Rakover Y....Amselem S.
|
2011 |
| 45 |
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature. ( 21249393
)
|
Bonfig W....Schmidt H.
|
2011 |
| 46 |
Novel mutations associated with combined pituitary hormone deficiency. ( 21447626
)
|
Romero C.J....Radovick S.
|
2011 |
| 47 |
X-linked recessive combined pituitary hormone deficiency is mapped to Xp22.3-Xp11 in a Chinese family. ( 22001696
)
|
Wang C.L....Dong G.P.
|
2011 |
| 48 |
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency. ( 21396574
)
|
PfAoffle R....Klammt J.
|
2011 |
| 49 |
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. ( 20389107
)
|
de Graaff L.C....Hokken-Koelega A.C.
|
2010 |
| 50 |
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency. ( 20231366
)
|
Spiegel R....Tenenbaum-Rakover Y.
|
2010 |
Rare infertility disorders
