Search details
1.
Chromosomal microdeletion leading to pituitary gigantism through hormone-gene overexpression.
Hum Mol Genet
; 32(14): 2318-2325, 2023 07 04.
Article
in English
| MEDLINE | ID: mdl-37070740
2.
Systematic molecular analyses for 115 karyotypically normal men with isolated non-obstructive azoospermia.
Hum Reprod
; 39(5): 1131-1140, 2024 May 02.
Article
in English
| MEDLINE | ID: mdl-38511217
3.
Quantification of Maternal Microchimeric Cells in the Liver of Children With Biliary Atresia.
J Pediatr Gastroenterol Nutr
; 74(4): e83-e86, 2022 04 01.
Article
in English
| MEDLINE | ID: mdl-35082246
4.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hum Mol Genet
; 28(14): 2319-2329, 2019 07 15.
Article
in English
| MEDLINE | ID: mdl-30985895
5.
Frequency of Common Copy-Number Variations at 15q11.2q13 in Sperm of Healthy Men.
Cytogenet Genome Res
; 159(2): 66-73, 2019.
Article
in English
| MEDLINE | ID: mdl-31639787
6.
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Endocr J
; 64(10): 947-954, 2017 Oct 28.
Article
in English
| MEDLINE | ID: mdl-28768959
7.
Expression levels and DNA methylation profiles of the growth gene SHOX in cartilage tissues and chondrocytes.
Sci Rep
; 14(1): 8069, 2024 04 05.
Article
in English
| MEDLINE | ID: mdl-38580675
8.
Intrauterine Hyponutrition Reduces Fetal Testosterone Production and Postnatal Sperm Count in the Mouse.
J Endocr Soc
; 6(4): bvac022, 2022 Apr 01.
Article
in English
| MEDLINE | ID: mdl-35265782
9.
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Endocrinology
; 164(2)2022 12 19.
Article
in English
| MEDLINE | ID: mdl-36427334
10.
NDNF variants are rare in patients with congenital hypogonadotropic hypogonadism.
Hum Genome Var
; 8(1): 5, 2021 Feb 02.
Article
in English
| MEDLINE | ID: mdl-33531459
11.
Role of Liquid-Liquid Separation in Endocrine and Living Cells.
J Endocr Soc
; 5(10): bvab126, 2021 Oct 01.
Article
in English
| MEDLINE | ID: mdl-34396024
12.
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.
Eur J Med Genet
; 63(1): 103626, 2020 Jan.
Article
in English
| MEDLINE | ID: mdl-30711679
13.
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Mol Genet Genomic Med
; 7(6): e730, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31060112
14.
Mouse polycomb group gene Cbx2 promotes osteoblastic but suppresses adipogenic differentiation in postnatal long bones.
Bone
; 120: 219-231, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30389610
15.
Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cells.
BMC Med Genomics
; 12(1): 77, 2019 05 28.
Article
in English
| MEDLINE | ID: mdl-31138192
16.
Cadherin-8 is required for the first relay synapses to receive functional inputs from primary sensory afferents for cold sensation.
J Neurosci
; 27(13): 3466-76, 2007 Mar 28.
Article
in English
| MEDLINE | ID: mdl-17392463
17.
Importance of forkhead transcription factor Fkhl18 for development of testicular vasculature.
Mol Reprod Dev
; 75(9): 1361-71, 2008 Sep.
Article
in English
| MEDLINE | ID: mdl-18288644
18.
An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
Hum Genome Var
; 5: 18006, 2018.
Article
in English
| MEDLINE | ID: mdl-29531775
19.
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
Hum Genome Var
; 4: 17008, 2017.
Article
in English
| MEDLINE | ID: mdl-28326187
20.
Reduced pain sensitivity in mice lacking latexin, an inhibitor of metallocarboxypeptidases.
Brain Res
; 1075(1): 117-21, 2006 Feb 23.
Article
in English
| MEDLINE | ID: mdl-16469302