-
1
-
-
0030884577
-
Pituitary stalk interruption syndrome: A clinical-biological-genetic assessmentofist pathogenesis
-
Pinto G, Netchine I, Sobrier M.L., Brunelle F., Souberbielle JC, Brauner R. Pituitary stalk interruption syndrome: a clinical-biological-genetic assessmentofist pathogenesis. J Clin Endocrinol Metab. 1997; 82:3450-3454.
-
(1997)
J Clin Endocrinol Metab.
, vol.82
, pp. 3450-3454
-
-
Pinto, G.1
Netchine, I.2
Sobrier, M.L.3
Brunelle, F.4
Souberbielle, J.C.5
Brauner, R.6
-
2
-
-
66149164472
-
Diagnosis of growth hormone (GH) deficiency: Comparison of pituitary stalk interruption syndrome and transient GH deficiency
-
Louvel M, Marcu M, Trivin C., Souberbielle JC, Brauner R. Diagnosis of growth hormone (GH) deficiency: comparison of pituitary stalk interruption syndrome and transient GH deficiency. BMC Pediatr. 2009; 9:29.
-
(2009)
BMC Pediatr.
, vol.9
, pp. 29
-
-
Louvel, M.1
Marcu, M.2
Trivin, C.3
Souberbielle, J.C.4
Brauner, R.5
-
3
-
-
79953218776
-
Pituitary stalk interruption syndrome in 83 patients: Novel HESX1 mutation and severe hormonal prognosis in malformative forms
-
Reynaud R, Albarel F, Saveanu A., et al Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. Eur J Endocrinol. 2011; 164:457-465.
-
(2011)
Eur J Endocrinol.
, vol.164
, pp. 457-465
-
-
Reynaud, R.1
Albarel, F.2
Saveanu, A.3
-
4
-
-
84861995511
-
PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption
-
Reynaud R, Jayakody SA, Monnier C, et al PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab. 2012; 97:1068-1073.
-
(2012)
J Clin Endocrinol Metab.
, vol.97
, pp. 1068-1073
-
-
Reynaud, R.1
Jayakody, S.A.2
Monnier, C.3
-
5
-
-
84878535545
-
Pituitary stalk interruption syndrome in 58 Chinese patients: Clinical features and genetic analysis
-
[published online December 1, 2012] doi:10.1111/cen.12116
-
Yang Y, Guo QH, Wang B.A., et al Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis [published online December 1, 2012]. Clin Endocrinol (Oxf). doi:10.1111/cen.12116.
-
Clin Endocrinol (Oxf)
-
-
Yang, Y.1
Guo, Q.H.2
Wang, B.A.3
-
6
-
-
73249143539
-
Genetic regulation of pituitary gland development in human and mouse
-
Kelberman D, Rizzoti K, Lovell-Badge R, Robinson I.C., Dattani MT Genetic regulation of pituitary gland development in human and mouse. Endocr Rev. 2009; 320:790-829.
-
(2009)
Endocr Rev.
, vol.320
, pp. 790-829
-
-
Kelberman, D.1
Rizzoti, K.2
Lovell-Badge, R.3
Robinson, I.C.4
Dattani, M.T.5
-
7
-
-
56449105561
-
Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development
-
Gaston-Massuet C., Andoniadou CL, Signore M, et al Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development. Dev Biol. 2008; 324:322-333.
-
(2008)
Dev Biol.
, vol.324
, pp. 322-333
-
-
Gaston-Massuet, C.1
Andoniadou, C.L.2
Signore, M.3
-
8
-
-
0033305649
-
Her-italbe disorders of pituitary development
-
Parks JS, Brown MR, Hurley D.L., Phelps CJ, Wajnrajch MP Her-italbe disorders of pituitary development. J Clin Endocrinol Metab. 1999; 84:4362-4370.
-
(1999)
J Clin Endocrinol Metab.
, vol.84
, pp. 4362-4370
-
-
Parks, J.S.1
Brown, M.R.2
Hurley, D.L.3
Phelps, C.J.4
Wajnrajch, M.P.5
-
9
-
-
17344371881
-
Mutations in PROP1 cause familial combined pituitary hormone deficiency
-
Wu W, Cogan JD, Pfäffle RW, et al Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet. 1998; 18(2):147-149.
-
(1998)
Nat Genet.
, vol.18
, Issue.2
, pp. 147-149
-
-
Wu, W.1
Cogan, J.D.2
Pfäffle, R.W.3
-
10
-
-
33646236927
-
Congenital adenohy-pophysis aplasia: Clinical features and analysis of the transcriptional factors for embryonic pituitary development
-
Arrigo T, Wasniewska M, De Luca F, et al Congenital adenohy-pophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development. J Endocrinol Invest. 2006; 29:208-213.
-
(2006)
J Endocrinol Invest.
, vol.29
, pp. 208-213
-
-
Arrigo, T.1
Wasniewska, M.2
De Luca, F.3
-
12
-
-
75149161937
-
Hedgehog signaling: Endocrine gland development and function
-
Cohen MM Jr. Hedgehog signaling: endocrine gland development and function. Am J Med Genet A. 2009; 152A:238-244.
-
(2009)
Am J Med Genet A
, vol.152 A
, pp. 238-244
-
-
Cohen Jr., M.M.1
-
13
-
-
2442568583
-
Pituitary magnetic resonance imaging in 15 patients with prop1 gene mutations: Pituitary enlargement may originate from the intermediate lobe
-
Voutetakis A, Argyropoulou M, Sertedaki A., et al Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab. 2004; 89:2200-2206.
-
(2004)
J Clin Endocrinol Metab.
, vol.89
, pp. 2200-2206
-
-
Voutetakis, A.1
Argyropoulou, M.2
Sertedaki, A.3
-
14
-
-
33749472755
-
Holoprosencephaly: Clinical, anatomic, and molecular dimensions
-
Cohen MM Jr. Holoprosencephaly: clinical, anatomic, and molecular dimensions. Birth Defects Res A Clin Mol Teratol. 2006; 76: 658-673.
-
(2006)
Birth Defects Res a Clin Mol Teratol.
, vol.76
, pp. 658-673
-
-
Cohen Jr., M.M.1
-
15
-
-
34247868880
-
-
Dubourg C, Bendavid C, Pasquier L., Henry C, Odent S, David V. Holoprosencephaly Orphanet J Rare Dis. 2007; 2:8.
-
(2007)
Holoprosencephaly Orphanet J Rare Dis.
, vol.2
, pp. 8
-
-
Dubourg, C.1
Bendavid, C.2
Pasquier, L.3
Henry, C.4
Odent, S.5
David, V.6
-
16
-
-
76149115564
-
Analysis of genotype-phe-notype correlations in human holoprosencephaly
-
Solomon BD, Mercier S, Vélez JI, et al Analysis of genotype-phe-notype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet. 2010; 154C:133-141.
-
(2010)
Am J Med Genet C Semin Med Genet.
, vol.154 C
, pp. 133-141
-
-
Solomon, B.D.1
Mercier, S.2
Vélez, J.I.3
-
18
-
-
76149115260
-
Epidemiology of holoprosencephaly: Prevalence and risk factors
-
Orioli IM, Castilla EE Epidemiology of holoprosencephaly: prevalence and risk factors. AmJMed GenetCSemin Med Genet. 2010; 154C:13-21.
-
(2010)
AmJMed GenetCSemin Med Genet.
, vol.154 C
, pp. 13-21
-
-
Orioli, I.M.1
Castilla, E.E.2
-
19
-
-
0036844229
-
Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
-
Ming JE, Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am J Hum Genet. 2002; 71:1017-1032.
-
(2002)
Am J Hum Genet.
, vol.71
, pp. 1017-1032
-
-
Ming, J.E.1
Muenke, M.2
-
20
-
-
3042824626
-
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holopros-encephaly spectrum: Mutation review and genotype-phenotype correlations
-
Dubourg C, Lazaro L, Pasquier L., et al Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holopros-encephaly spectrum: mutation review and genotype-phenotype correlations. Hum Mutat. 2004; 24:43-51.
-
(2004)
Hum Mutat
, vol.24
, pp. 43-51
-
-
Dubourg, C.1
Lazaro, L.2
Pasquier, L.3
-
21
-
-
34548446469
-
Midline defects in deletion 18p syndrome: Clinical and molecular characterization of three patients
-
Portnoï MF, Gruchy N, Marlin S. Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol. 2007; 16:247-252.
-
(2007)
Clin Dysmorphol.
, vol.16
, pp. 247-252
-
-
Portnoï, M.F.1
Gruchy, N.2
Marlin, S.3
-
22
-
-
33845518298
-
Towards mapping phenotypical traits in 18p-syndrome by array basede comparative genomic hybtidisation and fluorescent in situ hybridisation
-
Brenk CH, Prott EC, Trost D, Hoischen A., et al Towards mapping phenotypical traits in 18p-syndrome by array basede comparative genomic hybtidisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2006; 15:35-44.
-
(2006)
Eur J Hum Genet.
, vol.15
, pp. 35-44
-
-
Brenk, C.H.1
Prott, E.C.2
Trost, D.3
Hoischen, A.4
-
23
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L., et al A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7: 248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
24
-
-
0025911051
-
Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children
-
Argyropoulou M, Perignon F, Brunelle F., Brauner R, Rappaport R. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol. 1991; 21: 247-249.
-
(1991)
Pediatr Radiol.
, vol.21
, pp. 247-249
-
-
Argyropoulou, M.1
Perignon, F.2
Brunelle, F.3
Brauner, R.4
Rappaport, R.5
-
25
-
-
77955981282
-
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
-
Paulussen AD, Schrander-Stumpel CT, Tserpelis D.C., et al The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. Eur J Hum Genet. 2010; 18: 999-1005.
-
(2010)
Eur J Hum Genet.
, vol.18
, pp. 999-1005
-
-
Paulussen, A.D.1
Schrander-Stumpel, C.T.2
Tserpelis, D.C.3
-
26
-
-
0031944805
-
Holoprosencephaly: From homer to hedgehog
-
Ming JE, Muenke M. Holoprosencephaly: from Homer to Hedgehog. Clin Genet. 1998; 53:155-163.
-
(1998)
Clin Genet.
, vol.53
, pp. 155-163
-
-
Ming, J.E.1
Muenke, M.2
-
27
-
-
0035123270
-
Hedgehog signaling is required for pituitary gland development
-
Treier M, O'Connell S, Gleiberman A, et al Hedgehog signaling is required for pituitary gland development. Development. 2001; 128: 377-386.
-
(2001)
Development
, vol.128
, pp. 377-386
-
-
Treier, M.1
O'Connell, S.2
Gleiberman, A.3
-
28
-
-
78349305842
-
Direct and indirect requirements of shh/Gli signaling in early pituitary development
-
Wang Y, Martin JF, Bai CB Direct and indirect requirements of Shh/Gli signaling in early pituitary development. Dev Biol. 2010; 348:199-209.
-
(2010)
Dev Biol.
, vol.348
, pp. 199-209
-
-
Wang, Y.1
Martin, J.F.2
Bai, C.B.3
-
29
-
-
51949085076
-
Hedgehog: Functions and mechanisms
-
Varjosalo M, Taipale J. Hedgehog: functions and mechanisms. Genes Dev. 2008; 22:2454-2472.
-
(2008)
Genes Dev.
, vol.22
, pp. 2454-2472
-
-
Varjosalo, M.1
Taipale, J.2
-
30
-
-
28044441095
-
Molecular mechanisms of sonic hedgehog mutant effects in holoprosencephaly
-
Maity T, Fuse N, Beachy PA Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly. Proc Natl Acad Sci USA. 2005; 102:17026-17031.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 17026-17031
-
-
Maity, T.1
Fuse, N.2
Beachy, P.A.3
-
31
-
-
5644241741
-
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly
-
Traiffort E, Dubourg C, Faure H., et al Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem. 2004; 279:42889-42897.
-
(2004)
J Biol Chem.
, vol.279
, pp. 42889-42897
-
-
Traiffort, E.1
Dubourg, C.2
Faure, H.3
-
32
-
-
58849092141
-
Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner
-
Samer Singh, Robert Tokhunts, Valerie Baubet, et al Sonic hedgehog mutations identified in holoprosencephaly patients can act in a dominant negative manner. Hum Genet. 2009; 125:95-103.
-
(2009)
Hum Genet.
, vol.125
, pp. 95-103
-
-
Singh, S.1
Tokhunts, R.2
Baubet, V.3
-
33
-
-
0035934018
-
SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature
-
Nanni L, Ming JE, Du Y, et al SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature. Am J Med Genet. 2001; 102:1-10.
-
(2001)
Am J Med Genet.
, vol.102
, pp. 1-10
-
-
Nanni, L.1
Ming, J.E.2
Du, Y.3
-
34
-
-
77649183901
-
Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly
-
Bertolacini CD, Richieri-Costa A, Ribeiro-Bicudo LA. Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly. Brain Dev. 2010; 32:217-222.
-
(2010)
Brain Dev.
, vol.32
, pp. 217-222
-
-
Bertolacini, C.D.1
Richieri-Costa, A.2
Ribeiro-Bicudo, L.A.3
-
35
-
-
78049517995
-
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly
-
Franca MM, Jorge AA, Carvalho L.R., et al Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab. 2010; 95:E384-E391.
-
(2010)
J Clin Endocrinol Metab.
, vol.95
-
-
Franca, M.M.1
Jorge, A.A.2
Carvalho, L.R.3
-
36
-
-
16744368142
-
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination
-
Gripp KW, Wotton D, Edwards M.C., et al Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet. 2000; 25:205-208.
-
(2000)
Nat Genet.
, vol.25
, pp. 205-208
-
-
Gripp, K.W.1
Wotton, D.2
Edwards, M.C.3
-
37
-
-
0037318242
-
Molecular screening of the TGIF gene in holoprosencephaly: Identification of two novel mutations
-
Aguilella C, Dubourg C, Attia-Sobol J, et al Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet. 2003; 112:131-134.
-
(2003)
Hum Genet.
, vol.112
, pp. 131-134
-
-
Aguilella, C.1
Dubourg, C.2
Attia-Sobol, J.3
-
38
-
-
33645404995
-
A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease
-
Chen M, Kuo SJ, Liu C.S., et al A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease. Prenat Diagn. 2006; 26: 226-230.
-
(2006)
Prenat Diagn
, vol.26
, pp. 226-230
-
-
Chen, M.1
Kuo, S.J.2
Liu, C.S.3
-
39
-
-
33845209694
-
Functional analysis of mutations in TGIF associated with holoprosencephaly
-
El-Jaick K.B., Powers SE, Bartholin L, et al Functional analysis of mutations in TGIF associated with holoprosencephaly. Mol Genet Metab. 2007; 90:97-111.
-
(2007)
Mol Genet Metab.
, vol.90
, pp. 97-111
-
-
El-Jaick, K.B.1
Powers, S.E.2
Bartholin, L.3
-
40
-
-
67449132620
-
Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function
-
Lacbawan F, Solomon BD, Roessler E, et al Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. J Med Genet. 2009; 46: 389-398.
-
(2009)
J Med Genet.
, vol.46
, pp. 389-398
-
-
Lacbawan, F.1
Solomon, B.D.2
Roessler, E.3
|