Search details
1.
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-CYP21A2-R484Q Mutant Mouse.
Int J Mol Sci
; 25(10)2024 May 07.
Article
in English
| MEDLINE | ID: mdl-38791102
2.
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.
Am J Med Genet A
; 182(3): 570-575, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31825161
3.
Biochemical testing for neuroblastoma using plasma free 3-O-methyldopa, 3-methoxytyramine, and normetanephrine.
Pediatr Blood Cancer
; 67(2): e28081, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31724812
4.
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
Neuropediatrics
; 51(1): 72-75, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31627234
5.
Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
J Med Genet
; 55(2): 81-85, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29175836
6.
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
J Med Genet
; 54(3): 176-185, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27707803
7.
"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.
BMC Pediatr
; 18(1): 6, 2018 01 15.
Article
in English
| MEDLINE | ID: mdl-29334914
8.
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Am J Hum Genet
; 93(4): 727-34, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-24035193
9.
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Pediatr Allergy Immunol
; 32(4): 793-797, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33369776
10.
Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.
Cerebellum
; 19(3): 465-468, 2020 Jun.
Article
in English
| MEDLINE | ID: mdl-32146693
11.
Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects.
BMC Neurol
; 15: 182, 2015 Oct 06.
Article
in English
| MEDLINE | ID: mdl-26444858
12.
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Nat Genet
; 37(2): 166-70, 2005 Feb.
Article
in English
| MEDLINE | ID: mdl-15654338
13.
Fertility and sexual activity in patients with Triple A syndrome.
Front Endocrinol (Lausanne)
; 15: 1357084, 2024.
Article
in English
| MEDLINE | ID: mdl-38544685
14.
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Hum Mutat
; 33(10): 1474-84, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22678886
15.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Brain
; 134(Pt 1): 171-182, 2011 Jan.
Article
in English
| MEDLINE | ID: mdl-21186264
16.
Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.
Eur J Pediatr
; 171(10): 1453-9, 2012 Oct.
Article
in English
| MEDLINE | ID: mdl-22538409
17.
Biochemical Diagnosis of Catecholamine-Producing Tumors of Childhood: Neuroblastoma, Pheochromocytoma and Paraganglioma.
Front Endocrinol (Lausanne)
; 13: 901760, 2022.
Article
in English
| MEDLINE | ID: mdl-35957826
18.
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.
J Pediatr Endocrinol Metab
; 35(11): 1443-1447, 2022 Nov 25.
Article
in English
| MEDLINE | ID: mdl-35942587
19.
CYP21A2 Gene Expression in a Humanized 21-Hydroxylase Mouse Model Does Not Affect Adrenocortical Morphology and Function.
J Endocr Soc
; 6(6): bvac062, 2022 Jun 01.
Article
in English
| MEDLINE | ID: mdl-35592511
20.
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Endocr Rev
; 43(1): 91-159, 2022 01 12.
Article
in English
| MEDLINE | ID: mdl-33961029