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The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 06/2017, Volume 102, Issue 6, pp. 2075 - 2082
Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and... 
KIDNEY-DISEASE | YOUNG | MANAGEMENT | GENE | CHOLEDOCHAL CYSTS | LIVER | ENDOCRINOLOGY & METABOLISM | CLASSIFICATION | RENAL-TRANSPLANTATION | MUTATIONS | HEPATOCYTE NUCLEAR FACTOR-1-BETA | Urogenital Abnormalities - diagnostic imaging | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Choledochal Cyst - diagnostic imaging | Kidney Diseases, Cystic - diagnostic imaging | Male | Pancreatic Diseases - diagnostic imaging | Young Adult | Choledochal Cyst - genetics | Biliary Tract - diagnostic imaging | Kidney Diseases, Cystic - genetics | Adult | Female | Child | Hepatocyte Nuclear Factor 1-beta - genetics | Pancreas - diagnostic imaging | Pancreatic Diseases - congenital | Uterus - abnormalities | Pancreatic Diseases - genetics | Magnetic Resonance Imaging | Pancreas - abnormalities | Phenotype | Adolescent | Finland | Biliary Tract - abnormalities | Uterus - diagnostic imaging | Aged | Cholangiopancreatography, Magnetic Resonance | Mutation | Urogenital Abnormalities - genetics | Neonates | Nuclear magnetic resonance--NMR | Ducts | Catchments | Liver | Diabetes mellitus | Organs | Gallbladder diseases | Patients | Catchment areas | Bile duct | Hyperuricemia | Magnetic resonance imaging | Cysts | Resonance | Diabetes | Hypomagnesemia | Cholestasis | Cholangiocarcinoma | Kidney transplantation | Anomalies | Index Medicus | Abridged Index Medicus
Journal Article
Journal Article
Human Reproduction, ISSN 0268-1161, 05/2019, Volume 34, Issue 5, pp. 863 - 871
Abstract STUDY QUESTION What is the peripubertal outcome of recombinant human FSH (r-hFSH) treatment during minipuberty in boys with congenital... 
CHH | combined pituitary hormone deficiency | testosterone | FSH | micropenis | infant | Original | inhibin b
Journal Article
Journal Article
Journal Article
European Journal of Endocrinology, ISSN 0804-4643, 06/2016, Volume 174, Issue 6, pp. 785 - 790
Journal Article
Journal Article
Frontiers in Endocrinology, ISSN 1664-2392, 04/2018, Volume 9, pp. 194 - 194
Objective: Two missense mutations in KCNQ1, an imprinted gene that encodes thealpha subunit of the voltage-gated potassium channel Kv7.1, cause autosomal... 
Beta blocker | Ion channels | Long QT syndrome 1 | Growth | KCNQ1 | COMPLEX | KCN Q1 | beta blocker | K(V)LQT1 | ion channels | long QT syndrome 1 | REGION | TERMINUS | MIXED-EFFECTS MODELS | CALMODULIN | BECKWITH-WIEDEMANN | ENDOCRINOLOGY & METABOLISM | growth | DIFFERENTIATION | PROTEINS | POTASSIUM CHANNEL | Pregnancy | Gene mutations | Long QT syndrome | Genetic aspects | Children | Research | Drug therapy | Health aspects | Risk factors
Journal Article