Detalhe da pesquisa
1.
Lanreotide Reduces Liver Growth In Patients With Autosomal Dominant Polycystic Liver and Kidney Disease.
Gastroenterology
; 157(2): 481-491.e7, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31022403
2.
Rapid Progression of Autosomal Dominant Polycystic Kidney Disease: Urinary Biomarkers as Predictors.
Am J Nephrol
; 50(5): 375-385, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600749
3.
Effect of Lanreotide on Kidney Function in Patients With Autosomal Dominant Polycystic Kidney Disease: The DIPAK 1 Randomized Clinical Trial.
JAMA
; 320(19): 2010-2019, 2018 11 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30422235
4.
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Hum Mutat
; 38(7): 870-879, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28378423
5.
Proteomics of Urinary Vesicles Links Plakins and Complement to Polycystic Kidney Disease.
J Am Soc Nephrol
; 27(10): 3079-3092, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26940098
6.
IGSF1 variants in boys with familial delayed puberty.
Eur J Pediatr
; 174(5): 687-92, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25354429
7.
Clinical Characteristics of Pathogenic ACAN Variants and 3-Year Response to Growth Hormone Treatment: Real-World Data.
Horm Res Paediatr
; : 1-14, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38232712
8.
Genetic findings in short Turkish children born to consanguineous parents.
Horm Res Paediatr
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838658
9.
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).
Hum Mutat
; 34(5): 706-13, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23418007
10.
Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism.
J Clin Res Pediatr Endocrinol
; 2023 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36688726
11.
Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.
Mol Cell Endocrinol
; 559: 111799, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265659
12.
Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.
Eur J Endocrinol
; 186(5): 543-552, 2022 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35234134
13.
Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion.
Horm Res Paediatr
; 94(3-4): 81-104, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34091447
14.
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth
J Clin Res Pediatr Endocrinol
; 13(4): 461-467, 2021 11 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045800
15.
Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Horm Res Paediatr
; 94(11-12): 448-455, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34706368
16.
A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.
J Hepatol
; 63(5): 1295-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26307397
17.
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease course.
JIMD Rep
; 52(1): 23-27, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32154056
18.
Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients.
Stem Cells Transl Med
; 9(4): 478-490, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32163234
19.
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
BMC Med Genet
; 10: 34, 2009 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19368708
20.
Intrauterine Twin Discordancy and Partial Postnatal Catch-up Growth in a Girl with a Pathogenic IGF1R Mutation
J Clin Res Pediatr Endocrinol
; 11(3): 293-300, 2019 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859796