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1.
Trisomy 22: First and Second Trimester Cytogenetic Analysis and Phenotypic Presentation in a Series of Seven Cases.
Fetal Diagn Ther
; 51(2): 112-124, 2024.
Article
in English
| MEDLINE | ID: mdl-37926071
2.
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
J Med Genet
; 58(6): 400-413, 2021 06.
Article
in English
| MEDLINE | ID: mdl-32732226
3.
Determination of optimal parameters for 3D single-point macromolecular proton fraction mapping at 7T in healthy and demyelinated mouse brain.
Magn Reson Med
; 85(1): 369-379, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32767495
4.
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Am J Med Genet A
; 173(2): 479-486, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-27623003
5.
SERMs have substance-specific effects on bone, and these effects are mediated via ERαAF-1 in female mice.
Am J Physiol Endocrinol Metab
; 310(11): E912-8, 2016 06 01.
Article
in English
| MEDLINE | ID: mdl-27048997
6.
Estrogen dependent activation function of ERß is essential for the sexual behavior of mouse females.
Proc Natl Acad Sci U S A
; 109(48): 19822-7, 2012 Nov 27.
Article
in English
| MEDLINE | ID: mdl-23150547
7.
Pregnancy denial and unplanned home delivery: Considerations about fetal death causes and maternal drug use imputability.
Forensic Sci Int
; 342: 111538, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36543017
8.
Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.
Pediatr Pulmonol
; 58(11): 3095-3105, 2023 11.
Article
in English
| MEDLINE | ID: mdl-37560881
9.
Oligodendroglial primary cilium heterogeneity during development and demyelination/remyelination.
Front Cell Neurosci
; 16: 1049468, 2022.
Article
in English
| MEDLINE | ID: mdl-36505511
10.
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.
Prenat Diagn
; 36(13): 1276-1279, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27862069
11.
Sterility and absence of histopathological defects in nonreproductive organs of a mouse ERbeta-null mutant.
Proc Natl Acad Sci U S A
; 105(7): 2433-8, 2008 Feb 19.
Article
in English
| MEDLINE | ID: mdl-18268329
12.
The genetic ablation of SRC-3 protects against obesity and improves insulin sensitivity by reducing the acetylation of PGC-1{alpha}.
Proc Natl Acad Sci U S A
; 105(44): 17187-92, 2008 Nov 04.
Article
in English
| MEDLINE | ID: mdl-18957541
13.
Blood-Brain Barrier Permeability: Is 5-Hydroxytryptamine Receptor Type 4 a Game Changer?
Pharmaceutics
; 13(11)2021 Nov 03.
Article
in English
| MEDLINE | ID: mdl-34834271
14.
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Eur J Med Genet
; 63(4): 103857, 2020 Apr.
Article
in English
| MEDLINE | ID: mdl-31978614
15.
Quantitative and qualitative normative dataset for intraepidermal nerve fibers using skin biopsy.
PLoS One
; 13(1): e0191614, 2018.
Article
in English
| MEDLINE | ID: mdl-29370274
16.
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy.
AJP Rep
; 7(2): e124-e126, 2017 Apr.
Article
in English
| MEDLINE | ID: mdl-28670500
17.
Adenylate Cyclase Type III Is Not a Ubiquitous Marker for All Primary Cilia during Development.
PLoS One
; 12(1): e0170756, 2017.
Article
in English
| MEDLINE | ID: mdl-28122017
18.
Senescence of Pancreas in Middle-Aged Rats with Normal Vascular Function.
Ann Transplant
; 22: 177-186, 2017 Mar 31.
Article
in English
| MEDLINE | ID: mdl-28360408
19.
The role of activation functions 1 and 2 of estrogen receptor-α for the effects of estradiol and selective estrogen receptor modulators in male mice.
J Bone Miner Res
; 28(5): 1117-26, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23225083
20.
Loss of STOP protein impairs peripheral olfactory neurogenesis.
PLoS One
; 5(9): e12753, 2010 Sep 15.
Article
in English
| MEDLINE | ID: mdl-20856814