| scholarly article | Q13442814 |
| P50 | author | Zornitza Stark | Q57961824 |
| Robyn V Jamieson | Q59675724 | ||
| Ravi Savarirayan | Q89387389 | ||
| P2093 | author name string | Bruce Bennetts | |
| Rebecca Storen | |||
| P2860 | cites work | Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 | Q21092497 |
| WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome | Q24301463 | ||
| Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice | Q24309428 | ||
| A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules | Q24311797 | ||
| The cDNA sequence and chromosomal location of the human SOX2 gene | Q24312769 | ||
| SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development | Q24315523 | ||
| Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome | Q24657612 | ||
| Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54 | Q24685744 | ||
| Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH) | Q28281736 | ||
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans | Q28586560 | ||
| Mutations in SOX2 cause anophthalmia | Q34180637 | ||
| Novel SOX2 partner-factor domain mutation in a four-generation family | Q34327268 | ||
| A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor | Q34446712 | ||
| TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction | Q34902985 | ||
| SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions | Q36172165 | ||
| Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. | Q36509388 | ||
| Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. | Q45964826 | ||
| Hypogonadotropic hypogonadism in an adult female with a heterozygous hypomorphic mutation of SOX2. | Q48279925 | ||
| Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome | Q50336618 | ||
| SOX2 anophthalmia syndrome. | Q52053221 | ||
| Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. | Q55257548 | ||
| Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. | Q55434221 | ||
| Recurrence ofSOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother | Q57273778 | ||
| Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations | Q77481731 | ||
| Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement | Q79548490 | ||
| Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes | Q80067263 | ||
| P433 | issue | 7 | |
| P921 | main subject | hypogonadism | Q938107 |
| hypogonadotropic hypogonadism | Q30990102 | ||
| P304 | page(s) | 753-756 | |
| P577 | publication date | 2011-02-16 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring | |
| P478 | volume | 19 |
| Q37483886 | Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center |
| Q52113860 | De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. |
| Q35573283 | Eye development genes and known syndromes |
| Q36100642 | Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. |
| Q35869509 | Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia |
| Q38797075 | Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era. |
| Q89595747 | Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes |
| Q45343810 | Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. |
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