Search details
1.
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Am J Med Genet A
; 161A(10): 2582-7, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23929658
2.
Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA.
Prenat Diagn
; 32(4): 383-8, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22025315
3.
Local aromatase excess with recruitment of unusual promoters of CYP19A1 gene in prepubertal patients with gynecomastia.
J Pediatr Endocrinol Metab
; 35(7): 924-930, 2022 Jul 26.
Article
in English
| MEDLINE | ID: mdl-35667691
4.
Identification by array-Comparative Genomic Hybridization (array-CGH) of a large deletion of luteinizing hormone receptor gene combined with a missense mutation in a patient diagnosed with a 46,XY disorder of sex development and application to prenatal diagnosis.
Endocr J
; 58(9): 769-76, 2011.
Article
in English
| MEDLINE | ID: mdl-21720050
5.
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Front Endocrinol (Lausanne)
; 12: 736240, 2021.
Article
in English
| MEDLINE | ID: mdl-34721296
6.
GnRH agonist and GnRH antagonist protocols in ovarian stimulation: differential regulation pathway of aromatase expression in human granulosa cells.
Reprod Biomed Online
; 21(1): 56-65, 2010 Jul.
Article
in English
| MEDLINE | ID: mdl-20457540
7.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
J Bone Miner Res
; 35(5): 913-919, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31886927
8.
Unusual clinical description of adult with Timothy syndrome, carrier of a new heterozygote mutation of CACNA1C.
Eur J Med Genet
; 62(7): 103648, 2019 Jul.
Article
in English
| MEDLINE | ID: mdl-30998997
9.
Molecular characterization of a recurrent 10.9â¯kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
Eur J Med Genet
; 62(11): 103577, 2019 Nov.
Article
in English
| MEDLINE | ID: mdl-30423445
10.
High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.
Bone
; 123: 145-152, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30905746
11.
Aberrant adrenal sensitivity to vasopressin in adrenal tumours associated with subclinical or overt autonomous hypercortisolism: is this explained by an overexpression of vasopressin receptors?
Clin Endocrinol (Oxf)
; 68(5): 692-9, 2008 May.
Article
in English
| MEDLINE | ID: mdl-17980016
12.
Supernumerary marker chromosomes management in prenatal diagnosis.
Am J Med Genet A
; 146A(21): 2770-6, 2008 Nov 01.
Article
in English
| MEDLINE | ID: mdl-18925665
13.
Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?
J Bone Miner Res
; 32(9): 1893-1899, 2017 Sep.
Article
in English
| MEDLINE | ID: mdl-28548312
14.
The absence of a functional nuclear receptor element A (NREA) in the promoter II of the aromatase P450 gene in rabbit granulosa cells.
J Steroid Biochem Mol Biol
; 101(2-3): 127-35, 2006 Oct.
Article
in English
| MEDLINE | ID: mdl-16901689
15.
Distinct mRNA, protein expression patterns and distribution of oestrogen receptors alpha and beta in human primary breast cancer: correlation with proliferation marker Ki-67 and clinicopathological factors.
Eur J Cancer
; 41(18): 2924-34, 2005 Dec.
Article
in English
| MEDLINE | ID: mdl-16289616
16.
CFTR genotypes in patients with normal or borderline sweat chloride levels.
Hum Mutat
; 22(4): 340, 2003 Oct.
Article
in English
| MEDLINE | ID: mdl-12955726
17.
Differential regulation of two 3' end variants of P450 aromatase transcripts and of a new truncated aromatase protein in rabbit preovulatory granulosa cells.
Endocrinology
; 144(11): 4790-8, 2003 Nov.
Article
in English
| MEDLINE | ID: mdl-12960046
18.
Major hyperestrogenism in a feminizing adrenocortical adenoma despite a moderate overexpression of the aromatase enzyme.
Eur J Endocrinol
; 148(4): 457-61, 2003 Apr.
Article
in English
| MEDLINE | ID: mdl-12656667
19.
A case of complete hypogonadotropic hypogonadism with a mutation in the gonadotropin-releasing hormone receptor gene.
Fertil Steril
; 79(2): 442-4, 2003 Feb.
Article
in English
| MEDLINE | ID: mdl-12568864
20.
BMP system expression in GCs from polycystic ovary syndrome women and the in vitro effects of BMP4, BMP6, and BMP7 on GC steroidogenesis.
Eur J Endocrinol
; 168(3): 437-44, 2013 Mar.
Article
in English
| MEDLINE | ID: mdl-23243014