ALLMedicine™ Kallmann Syndrome Center
Research & Reviews 397 results
https://doi.org/10.1038/s41436-020-01051-3 10.1016/j.ajhg.2017.04.005 10.1016/j.neuron.2010.09.042 10.1002/humu.21583 10.1016/j.ajhg.2013.03.024 10.1016/j.mce.2011.07.012 10.3174/ajnr.A3367 10.1159/000436965 10.1016/j.gene.2019.03.039 10.1038/pr.2014.60 10.1530/EJE-18-0764 10.1038/s41586-020-2308-7 10.1002/humu.21438 10.1086/302895 10.1016/j.ajhg.2018.08.016 10.1038/nprot.2009.86 10.1093/nar/gky1016 10.1016/j.ajhg.2016.08.016 10.1107/S2053230X1501969X 10.1073/pnas.1009622107 10.1016/j.ajhg.2015.06.009 10.1093/hmg/ddv215 10.1093/hmg/ddm262 10.1038/ng1322 10.1242/bio.20135249 10.1016/S0012-1606(03)00039-3 10.1523/JNEUROSCI.6087-10.2011 10.1002/bdrc.21074 10.1210/jc.2004-2465 10.1093/humrep/dez040 10.1007/s12020-014-0434-4 10.1002/ajmg.a.32403 10.1002/ajmg.a.40362 10.1093/hmg/ddn110 10.1111/cen.13231 10.6065/apem.2015.20.1.27 10.1016/j.ejmg.2012.07.002 10.1086/522090 10.1007/s004310000624
Genetics in Medicine : Official Journal of the American College of Medical Genetics; Rojas RA, Kutateladze AA et. al.
Jan 14th, 2021 - SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent ele...
https://doi.org/10.1016/j.beem.2020.101475
Best Practice & Research. Clinical Endocrinology & Metabolism; Thakker S, Persily J et. al.
Jan 9th, 2021 - The understanding of male factors of infertility has grown exponentially in the past ten years. While clear guidelines for obstructive azoospermia have been developed, management of non-obstructive azoospermia has lagged. Specifically, management ...
https://doi.org/10.1007/s11011-020-00654-8 10.1210/jc.2008-0958 10.1210/jc.2007-2654 10.1007/s10545-014-9687-6 10.1002/pd.355 10.1016/j.ymgme.2009.07.014 10.1097/MD.0000000000007974 10.1002/jimd.12129 10.1186/s13023-014-0161-1 10.1007/s10545-016-9991-4 10.1186/1750-1172-6-41 10.1038/ng1683 10.1007/s10545-010-9161-z 10.3109/09513590.2012.752459 10.3390/ijms20133140 10.1159/000312698 10.1096/fj.13-243402 10.1016/j.metabol.2017.10.012 10.2147/NDT.S196924 10.1007/s10545-014-9791-7 10.5582/irdr.2018.01026 10.1007/s10545-011-9426-1
Metabolic Brain Disease; Yuan H, Deng S et. al.
Jan 7th, 2021 - Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-yea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581024
Medicine Tian H, Yan Z et. al.
Oct 30th, 2020 - Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common co...
https://doi.org/10.1016/j.ejmg.2020.104082
European Journal of Medical Genetics; Wang D, Lai P
Oct 15th, 2020 - The loss of heterozygosity localized at chromosome segment 8p11.2 causes a contiguous gene syndrome, which mostly combined phenotype of Kallmann syndrome and hereditary spherocytosis. It has been documented that this combined phenotype is in assoc...
Clinicaltrials.gov 401 results
https://doi.org/10.1038/s41436-020-01051-3 10.1016/j.ajhg.2017.04.005 10.1016/j.neuron.2010.09.042 10.1002/humu.21583 10.1016/j.ajhg.2013.03.024 10.1016/j.mce.2011.07.012 10.3174/ajnr.A3367 10.1159/000436965 10.1016/j.gene.2019.03.039 10.1038/pr.2014.60 10.1530/EJE-18-0764 10.1038/s41586-020-2308-7 10.1002/humu.21438 10.1086/302895 10.1016/j.ajhg.2018.08.016 10.1038/nprot.2009.86 10.1093/nar/gky1016 10.1016/j.ajhg.2016.08.016 10.1107/S2053230X1501969X 10.1073/pnas.1009622107 10.1016/j.ajhg.2015.06.009 10.1093/hmg/ddv215 10.1093/hmg/ddm262 10.1038/ng1322 10.1242/bio.20135249 10.1016/S0012-1606(03)00039-3 10.1523/JNEUROSCI.6087-10.2011 10.1002/bdrc.21074 10.1210/jc.2004-2465 10.1093/humrep/dez040 10.1007/s12020-014-0434-4 10.1002/ajmg.a.32403 10.1002/ajmg.a.40362 10.1093/hmg/ddn110 10.1111/cen.13231 10.6065/apem.2015.20.1.27 10.1016/j.ejmg.2012.07.002 10.1086/522090 10.1007/s004310000624
Genetics in Medicine : Official Journal of the American College of Medical Genetics; Rojas RA, Kutateladze AA et. al.
Jan 14th, 2021 - SOX10 variants previously implicated in Waardenburg syndrome (WS) have now been linked to Kallmann syndrome (KS), the anosmic form of idiopathic hypogonadotropic hypogonadism (IHH). We investigated whether SOX10-associated WS and IHH represent ele...
https://doi.org/10.1016/j.beem.2020.101475
Best Practice & Research. Clinical Endocrinology & Metabolism; Thakker S, Persily J et. al.
Jan 9th, 2021 - The understanding of male factors of infertility has grown exponentially in the past ten years. While clear guidelines for obstructive azoospermia have been developed, management of non-obstructive azoospermia has lagged. Specifically, management ...
https://doi.org/10.1007/s11011-020-00654-8 10.1210/jc.2008-0958 10.1210/jc.2007-2654 10.1007/s10545-014-9687-6 10.1002/pd.355 10.1016/j.ymgme.2009.07.014 10.1097/MD.0000000000007974 10.1002/jimd.12129 10.1186/s13023-014-0161-1 10.1007/s10545-016-9991-4 10.1186/1750-1172-6-41 10.1038/ng1683 10.1007/s10545-010-9161-z 10.3109/09513590.2012.752459 10.3390/ijms20133140 10.1159/000312698 10.1096/fj.13-243402 10.1016/j.metabol.2017.10.012 10.2147/NDT.S196924 10.1007/s10545-014-9791-7 10.5582/irdr.2018.01026 10.1007/s10545-011-9426-1
Metabolic Brain Disease; Yuan H, Deng S et. al.
Jan 7th, 2021 - Cobalamin C (cblC) disease and Kallmann syndrome (KS) are rare hereditary diseases. To date, no report has described the coexistence of those two genetic disorders in the same patient, or an association between them. We report the case of a 23-yea...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581024
Medicine Tian H, Yan Z et. al.
Oct 30th, 2020 - Kallmann syndrome (KS) is a rare inherited genetic disorder characterized by hypogonadotropic hypogonadism and hyposmia/anosmia. Early diagnosis is the key to timely treatment and improvement of prognosis in patients with KS. As the most common co...
https://doi.org/10.1016/j.ejmg.2020.104082
European Journal of Medical Genetics; Wang D, Lai P
Oct 15th, 2020 - The loss of heterozygosity localized at chromosome segment 8p11.2 causes a contiguous gene syndrome, which mostly combined phenotype of Kallmann syndrome and hereditary spherocytosis. It has been documented that this combined phenotype is in assoc...
News 2 results
https://www.medscape.com/viewarticle/916021_2
Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...
https://www.staging.medscape.com/viewarticle/916021_2
Materials and Methods Patients Ten neonates and infants were included, all with bilateral cryptorchidism in the intra-abdominal or inguinal position and micropenis ≤2 cm (≤2 SDS).[14] The absence of neonatal male mini-puberty was confirmed with at...
