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tyrosine kinase receptor, is expressed in Rathke's pouch and ventral diencephalon in the developing human embryo (5) . PROKR2 is a G protein-coupled receptor essential for normal olfactory bulb development and sexual maturation in mice (6) , and it is
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addition, this patient was screened for digenic/oligogenic mutations by sequencing additional genes related to the hypothalamic–pituitary–gonadal axis ( KAL1 , FGFR1 , GNRH1 , FGF8 , PROK2 , PROKR2 , KISS1R , CHD7 , TAC3 and TACR3 ) (all primer
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
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– fibroblast growth factor 17, IL17RD – interleukin 17 receptor D, PROK2 – prokineticin 2, PROKR2 – prokineticin receptor 2, HS6ST1 – heparin sulfate 6 O sulfutransferase, CHD7 – chromodomain helicase DNA-binding protein 7, WDR11 – WD repeat
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2, HESX1, LHX3, LHX4, OTX2, PITX2, ARNT2, DMXL2, FGF8, FGFR1, GPR161, HHIP, IGSF1, KAL1, PROKR2, RNPC3, SHH, SOX2, SOX3 and TGIF1 ( 2 ). Genomic DNA was mechanically fragmented using Covaris. Libraries were constructed using SureSelect Target
The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Rappaport Faculty of Medicine, Technion, Haifa, Israel
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The Azrieli Faculty of Medicine, Bar-Ilan, Safed, Israel
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M AR Missense – novel (pathogenic) 3 46,XY 5.5 SRD5A2, AR, NR5A1 11.0 WT1(ENST00000332351.3) c.1433-3C>G AD Splice – novel de novo (pathogenic) PROKR2 (c.809G>A, p.R270H) FANCC (c.77C>T, p.S26F) 4 46,XY
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
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Université Paris Cité, Faculté de Santé, UFR de Médecine, Paris, France
Inserm UMR1185, Le Kremlin Bicetre, Paris, France
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Inserm UMR1185, Le Kremlin Bicetre, Paris, France
Paris-Saclay University, Paris, France
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selection of the genes investigated was based on the PubMed and Orphanet bibliography (ORPHA432 and ORPHA478) and on the OMIM database. The genes investigated in the IHH were GNRHR, GNRH1, KISS1R, KISS1, TACR3, TAC3, ANOS1, FGFR1, FGF8, PROKR2, PROK2, WDR11
Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Division of Auxology and Metabolic Diseases, IRCSS Istituto Auxologico Italiano, Piancavallo (VB), Italy
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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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Department of Clinical Sciences and Community Health, Università degli Studi, Milan, Italy
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, FSHB , FEZF1 , NSMF , LHB , FGF17 , PROK2 , FGF8 , PROKR2 , FGFR1 , SEMA3A , FLRT3 , SEMA3E , GNRH1/2 , SEMA7A , SOX10 , GNRHR , SOX2 , HS6ST1 , HESX1, SPRY4 , IL17RD , TAC3 , ANOS1 ( KAL1 ), TACR3 , KISS1 , WDR11 , KISS1R , LHX
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-337 ) 42 Basaran Y Bolu E Unal HU Sagkan RI Taslipinar A Ozgurtas T & Musabak U . Multiplex ligation dependent probe amplification analysis of KAL1, GNRH1, GNRHR, PROK2 and PROKR2 in male patients with idiopathic hypogonadotropic
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National and Kapodistrian University of Athens Medical School, ‘Aghia Sophia’ Children’s Hospital, Athens, Greece
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regulation of GnRH secretion. Mutations in many genes can cause HH, and some of these genes are also implicated in CPHD (among them, CHD7, PROKR2, WDR11, FGFR1, and FGF8). In humans, a differentiating diagnosis between PROP1 and POU1F1 patients can be the
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
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2 600288 AD Hypopituitarism with craniofacial and endoderm-derived organ abnormalities and hyperinsulinism PROKR2 607123 AR, AD Variable hypopituitarism associated with septo-optic dysplasia or pituitary stalk interruption