Genetics of congenital hypogonadotropic hypogonadism in Denmark.

[1]  V. Tillmann,et al.  De novo SOX10 nonsense mutation in a patient with Kallmann syndrome and hearing loss , 2014, Pediatric Research.

[2]  R. Fagerholm,et al.  Mutation screening of SEMA3A and SEMA7A in patients with congenital hypogonadotropic hypogonadism , 2014, Pediatric Research.

[3]  J. Hardelin,et al.  Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. , 2013, European journal of endocrinology.

[4]  J. Hardelin,et al.  Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. , 2013, American journal of human genetics.

[5]  Jutta Gampe,et al.  Genome‐wide linkage analysis for human longevity: Genetics of Healthy Aging Study , 2013, Aging cell.

[6]  N. Jørgensen,et al.  A homozygous R262Q mutation in the gonadotropin‐releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late‐onset hypogonadism , 2013, Clinical endocrinology.

[7]  S. Kreiborg,et al.  Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome , 2013, Clinical genetics.

[8]  S. Wołczyński,et al.  Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. , 2012, Advances in medical sciences.

[9]  J. Hardelin,et al.  SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome , 2012, PLoS genetics.

[10]  T. Raivio,et al.  Bone mineral density, body composition and bone turnover in patients with congenital hypogonadotropic hypogonadism. , 2012, International journal of andrology.

[11]  J. Toppari,et al.  Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations , 2012, PloS one.

[12]  L. D. Kotan,et al.  Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism , 2012 .

[13]  Jacques Young,et al.  SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. , 2012, Human reproduction.

[14]  L. Hoefsloot,et al.  The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. , 2012, The Journal of clinical endocrinology and metabolism.

[15]  T. Raivio,et al.  LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty , 2011, BMC Research Notes.

[16]  J. Toppari,et al.  Isolated cryptorchidism: No evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism , 2011, Molecular and Cellular Endocrinology.

[17]  T. Raivio,et al.  The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty. , 2011, Fertility and sterility.

[18]  R. Quinton,et al.  Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism , 2011, Proceedings of the National Academy of Sciences.

[19]  M. Tervaniemi,et al.  Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland , 2011, Orphanet journal of rare diseases.

[20]  W. Crowley,et al.  The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations. , 2011, Endocrine reviews.

[21]  J. Stockman.  Recent Decline in Age at Breast Development: The Copenhagen Puberty Study , 2011 .

[22]  J. Gusella,et al.  Oligogenic basis of isolated gonadotropin-releasing hormone deficiency , 2010, Proceedings of the National Academy of Sciences.

[23]  P. Chanson,et al.  Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships. , 2010, European journal of endocrinology.

[24]  P. Chanson,et al.  Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. , 2009, The New England journal of medicine.

[25]  U. Kaiser,et al.  The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism , 2009, Nature Reviews Endocrinology.

[26]  W. Crowley,et al.  GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism , 2009, Proceedings of the National Academy of Sciences.

[27]  Frank Reimann,et al.  TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction , 2009, Nature Genetics.

[28]  M. Tekin,et al.  Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. , 2008, American journal of human genetics.

[29]  M. de Castro,et al.  Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. , 2008, The Journal of clinical endocrinology and metabolism.

[30]  R. Quinton,et al.  Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. , 2008, The Journal of clinical investigation.

[31]  J. Hardelin,et al.  Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome , 2008, European Journal of Human Genetics.

[32]  W. Crowley,et al.  Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism , 2007, Proceedings of the National Academy of Sciences.

[33]  N. Xu,et al.  KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans. , 2007, Molecular human reproduction.

[34]  Shaun K Olsen,et al.  Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. , 2007, The Journal of clinical investigation.

[35]  F. Speleman,et al.  Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome , 2003, Nature Genetics.

[36]  M. Delvecchio,et al.  [Constitutional delay of growth and puberty]. , 2001, Minerva pediatrica.

[37]  W. Crowley,et al.  Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations. , 1998, Endocrine reviews.

[38]  P. Chanson,et al.  A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. , 1997, The New England journal of medicine.

[39]  P. Bouloux,et al.  Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. , 1993, Human molecular genetics.

[40]  T. Raivio,et al.  LIN 28 B , LIN 28 A , KISS 1 , and KISS 1 R in idiopathic central precocious puberty , 2022 .