Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
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Genetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genesCongenital Hypogonadotropic Hypogonadism and Kallmann Syndrome: Past, Present, and FutureCentral hypogonadotropic hypogonadism: genetic complexity of a complex diseaseThe genetic basis of female reproductive disorders: etiology and clinical testingA Jacob/Nsmf Gene Knockout Results in Hippocampal Dysplasia and Impaired BDNF Signaling in Dendritogenesis.NELF knockout is associated with impaired pubertal development and subfertility.Dysregulation of Semaphorin7A/β1-integrin signaling leads to defective GnRH-1 cell migration, abnormal gonadal development and altered fertilityNeonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism.Long-term follow-up of females with unbalanced X;Y translocations-reproductive and nonreproductive consequences.Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/PalateDiscovering Genes Essential to the Hypothalamic Regulation of Human Reproduction Using a Human Disease Model: Adjusting to Life in the "-Omics" Era.The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.New understandings of the genetic basis of isolated idiopathic central hypogonadism.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.What do we learn from the murine Jacob/Nsmf gene knockout for human disease?Identification of HESX1 mutations in Kallmann syndrome.Differential expression of nasal embryonic LHRH factor (NELF) variants in immortalized GnRH neuronal cell lines.Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations.Differential gene expression in migratory streams of cortical interneurons.Congenital Hypogonadotropic Hypogonadism and Constitutional Delay of Growth and Puberty Have Distinct Genetic Architectures.Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysisHypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the Gene: An Underrecognized Association
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Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 15 February 2011
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Nasal embryonic LHRH factor (N ...... onadism and Kallmann syndrome.
@en
Nasal embryonic LHRH factor
@nl
type
label
Nasal embryonic LHRH factor (N ...... onadism and Kallmann syndrome.
@en
Nasal embryonic LHRH factor
@nl
prefLabel
Nasal embryonic LHRH factor (N ...... onadism and Kallmann syndrome.
@en
Nasal embryonic LHRH factor
@nl
P2093
P2860
P1476
Nasal embryonic LHRH factor (N ...... gonadism and Kallmann syndrome
@en
P2093
Anna M H Grove
Balasubramanian Bhagavath
David P Bick
Hyung-Goo Kim
Irene Meliciani
Jae Ho Lee
Kathryn A Stackhouse
Kyungsoo Ha
Lawrence C Layman
Lawrence N Odom
P2860
P304
1613-20.e1-7
P356
10.1016/J.FERTNSTERT.2011.01.010
P407
P577
2011-02-15T00:00:00Z