E-LIB Suche - Ergebnisse für: Plummer, Lacey

1

Defective FGFR1 signaling disrupts glucose regulation: Evid..:

Stamou, Maria I ; Chiu, Crystal J ; Jadhav, Shreya V...
Journal of the Endocrine Society. , 2024

Link: https://doi.org/10.1210/..

2

Heterozygous mutations in SOX2 may cause idiopathic hypogon..:

Cassin, Jessica ; Stamou, Maria I. ; Keefe, Kimberly W....
JCI Insight. 8 (2023) 3 - p. , 2023

Link: https://doi.org/10.1172/..

3

FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypog..:

Cassin, Jessica ; Keefe, David L ; Sung, Kaitlin E...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

4

How human genetic context can inform pathogenicity classifi..:

Xu, Wanxue ; Plummer, Lacey ; Seminara, Stephanie B...
Human Genetics. 142 (2023) 11 - p. 1611-1619 , 2023

Link: https://doi.org/10.1007/..

5

A functional spectrum of PROKR2 mutations identified in iso..:

Wang, Xinying ; Chen, Danna ; Zhao, Yaguang...
Human Molecular Genetics. 32 (2023) 10 - p. 1722-1729 , 2023

Link: https://doi.org/10.1093/..

6

Phenotypic continuum between Waardenburg syndrome and idiop..:

Rojas, Rebecca A. ; Kutateladze, Anna A. ; Plummer, Lacey...
Genetics in Medicine. 25 (2023) 6 - p. 100855 , 2023

Link: https://doi.org/10.1016/..

7

Prevalence of Deleterious Variants in MC3R in Patients With..:

Duckett, Katie ; Williamson, Alice ; Kincaid, John W R...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 12 - p. e1580-e1587 , 2023

Link: https://doi.org/10.1210/..

8

OR34-04 Defective FGFR1 Signaling Disrupts Glucose Regulati..:

Stamou, Maria ; Chiu, Crystal Jane ; Jadhav, Shreya...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

Link: https://doi.org/10.1210/..

9

Reproductive Phenotypes and Genotypes in Men With IHH:

Dwyer, Andrew A ; Stamou, Maria I ; Anghel, Ella...
The Journal of Clinical Endocrinology & Metabolism. 108 (2022) 4 - p. 897-908 , 2022

Link: https://doi.org/10.1210/..

10

LBMON114 Enrichment Of Rare Sequence Variants In Genes That..:

Brown, Ethan ; Shekhar, Skand ; Delaney, Angela...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A466-A467 , 2022

Link: https://doi.org/10.1210/..

11

Reversible hypogonadotropic hypogonadism in men with the fe..:

Dwyer, Andrew A. ; Stamou, Maria ; McDonald, Isabella R....
Frontiers in Endocrinology. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

12

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in G..:

Lippincott, Margaret F. ; Xu, Wanxue ; Smith, Abigail A....
Genetics in Medicine. 24 (2022) 12 - p. 2501-2515 , 2022

Link: https://doi.org/10.1016/..

13

Prevalence and Phenotypic Effects of Copy Number Variants i..:

Stamou, Maria I ; Brand, Harrison ; Wang, Mei...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 8 - p. 2228-2242 , 2022

Link: https://doi.org/10.1210/..

14

Phenotypic continuum between Waardenburg syndrome and idiop..:

Rojas, Rebecca A. ; Kutateladze, Anna A. ; Plummer, Lacey...
Genetics in Medicine. 23 (2021) 4 - p. 629-636 , 2021

Link: https://doi.org/10.1038/..

15

Contribution of Copy Number Variation in Idiopathic Hypogon..:

Stamou*, Maria ; Brand*, Harrison ; Lippincott, Margaret Flynn...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A756-A756 , 2021

Link: https://doi.org/10.1210/..