Detalhe da pesquisa
1.
Position effects at the FGF8 locus are associated with femoral hypoplasia.
Am J Hum Genet
; 108(9): 1725-1734, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34433009
2.
Vitamin D3 Receptors and Metabolic Enzymes in Hen Reproductive Tissues.
Int J Mol Sci
; 24(23)2023 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38069397
3.
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Am J Med Genet A
; 188(2): 642-647, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773354
4.
An Overview of the Current Known and Unknown Roles of Vitamin D3 in the Female Reproductive System: Lessons from Farm Animals, Birds, and Fish.
Int J Mol Sci
; 23(22)2022 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36430615
5.
Altered vitamin D metabolic system in follicular cysts of sows.
Reprod Domest Anim
; 56(1): 193-196, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33217765
6.
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression.
Int J Mol Sci
; 22(3)2021 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33498969
7.
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Clin Genet
; 96(5): 429-438, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31347140
8.
Noncoding copy-number variations are associated with congenital limb malformation.
Genet Med
; 20(6): 599-607, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29236091
9.
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
J Hum Genet
; 61(5): 457-61, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763883
10.
Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.
Ginekol Pol
; 87(10): 706-710, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27958623
11.
Preliminary Results Concerning the Influence of Human Kisspeptin on LH Secretion in Prussian Carp (Carassius gibelio) Females at the Stage of Ovarian Recrudescence and Spawning Season.
Folia Biol (Krakow)
; 63(1): 25-33, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26103682
12.
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
Birth Defects Res A Clin Mol Teratol
; 100(4): 314-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706454
13.
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
J Med Genet
; 50(9): 579-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23709756
14.
Phenology and ecological role of aerobic anoxygenic phototrophs in freshwaters.
Microbiome
; 12(1): 65, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38539229
15.
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome.
J Appl Genet
; 64(1): 125-134, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586055
16.
The Effect of [(D-Ala6, Pro9NEt)mGnRH-a + Metoclopramide] (Ovopel) on Propagation Effectiveness of Two Breeding Lines of Common Carp (Cyprinus carpio L.) and on Luteinizing Hormone and 17α,20ß-Dihydroxyprogesterone Levels in Females during Ovulation Induction.
Animals (Basel)
; 13(8)2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106991
17.
A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.
Front Mol Biosci
; 10: 1250714, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916192
18.
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.
Diagnostics (Basel)
; 13(4)2023 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36832217
19.
Dopamine control of LH release in the tench (Tinca tinca).
Gen Comp Endocrinol
; 175(1): 34-8, 2012 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22094207
20.
Genotoxic Effect of Cadmium and Zinc in the Peripheral Erythrocytes of Prussian Carp (Carassius Gibelio B.).
J Vet Res
; 66(4): 619-628, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36846032