| P2093 | author name string | Abdelkrim Kadiri | |
| | Latifa Hilal | |
| | Marie-Pierre Vie-Luton | |
| | Serge Amselem | |
| | Yassir Hajaji | |
| | Bouchra Benazzouz | |
| | Marie-Laure Sobrier | |
| | Adelmajid Chraïbi | |
| | Maha Chana | |
| | Zeina Ajaltouni | |
| P2860 | cites work | Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature | Q24306403 |
| | Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse | Q24311677 |
| | Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone | Q24337590 |
| | Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. | Q24536132 |
| | Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency | Q24561792 |
| | Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis | Q24599714 |
| | A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction | Q24681401 |
| | Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1 | Q28143971 |
| | Molecular basis of the little mouse phenotype and implications for cell type-specific growth | Q28594531 |
| | Pre-mRNA splicing and human disease | Q29617335 |
| | Growth hormone releasing hormone receptor | Q30310421 |
| | Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. | Q30329799 |
| | Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene | Q33855538 |
| | Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia | Q34269693 |
| | Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene | Q34456664 |
| | Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh | Q34479974 |
| | Killing the messenger: new insights into nonsense-mediated mRNA decay | Q34487265 |
| | Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities | Q34561635 |
| | Familial Growth Hormone Deficiency and Mutations in the GHRH Receptor Gene | Q35805031 |
| | Genetic defects in GH synthesis and secretion. | Q35875681 |
| | Growth hormone-releasing factor stimulates proliferation of somatotrophs in vitro | Q37399225 |
| | Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding | Q40379172 |
| | Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses | Q42505546 |
| | A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. | Q44282346 |
| | Variability in anterior pituitary size within members of a family with GH deficiency due to a new splice mutation in the GHRH receptor gene. | Q47424558 |
| | Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children | Q47436393 |
| | Magnetic resonance imaging study of pituitary morphology in subjects homozygous and heterozygous for a null mutation of the GHRH receptor gene | Q48355122 |
| | Familial growth hormone deficiency associated with MRI abnormalities | Q48355747 |
| | MR imaging in idiopathic growth hormone deficiency. | Q48359373 |
| | Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin | Q48436209 |
| | Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes | Q48454502 |
| | The association of hypopituitarism with small pituitary, invisible pituitary stalk, type 1 Arnold-Chiari malformation, and syringomyelia in seven patients born in breech position: a further proof of birth injury theory on the pathogenesis of "idiopa | Q48499854 |
| | A new mutation in the growth hormone-releasing hormone receptor gene in two Israeli Arab families | Q48586877 |
| | Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia | Q49120156 |
| | Complex disease phenotype revealed by GH deficiency associated with a novel and unusual defect in the GH-1 gene | Q58493470 |
| | Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene | Q73715299 |
| | Asymptomatic Chiari Type I malformations identified on magnetic resonance imaging | Q73853470 |
| | [Cerebral anomalies associated with growth hormone insufficiency in children: major markers for diagnosis?] | Q78111398 |
| P433 | issue | 5-6 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | patient | Q181600 |
| P304 | page(s) | 286-292 | |
| P577 | publication date | 2008-05-01 | |
| P1433 | published in | Molecular Medicine | Q6895961 |
| P1476 | title | Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene | |
| P478 | volume | 14 | |