Results 121 to 130 of about 477,437 (308)

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

Translational Highlights from The Journal of Clinical Endocrinology & Metabolism [PDF]

, 2013

openalex   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia

Case Reports in Endocrinology, 2022
Case Reports in Endocrinology
doaj   +1 more source

Office Endocrinology

Southern Medical Journal, 1942
Mode of access: Internet.
openaire   +1 more source

Prognostic Value of Lupus Anticoagulant and Anti–β2 Glycoprotein I Antibody in Adverse Pregnancy Outcomes

Arthritis &Rheumatology, EarlyView.
Objective International criteria for antiphospholipid syndrome (APS) include lupus anticoagulant (LA), anticardiolipin (aCL) IgG and IgM, and anti–β2‐glycoprotein I (β2GPI) IgG and IgM. However, evidence supporting their prognostic value or treatment efficacy in improving live birth rates is limited.
Megumi Nonobe, Takahiro Otani, Hiroyuki Yoshihara, Shinobu Goto, Tamao Kitaori, Naomi Nishikawa, Yuichiro Fujieda, Tatsuya Atsumi, Mayumi Sugiura‐Ogasawara   +8 more
wiley   +1 more source

Insights into tandem mass spectrometry for the laboratory endocrinology [PDF]

, 2013
Uberto Pagotto, Flaminia Fanelli, Renato Pasquali   +2 more
openalex   +1 more source

Per‐ and polyfluoroalkyl substances and hand osteoarthritis: data from the Osteoarthritis Initiative

Arthritis &Rheumatology, Accepted Article.
Objective To explore whether biological levels of specific per‐ and polyfluoroalkyl substances (PFAS) and a mixture of PFAS – reflecting the overall effect and accounting for correlations among each PFAS – relate to incident hand osteoarthritis (HOA) and progression.
Jeffrey B. Driban, Lisa B. Rokoff, Bing Lu, Timothy E. McAlindon, Charles B. Eaton, Mary B. Roberts, Diana Mathes, Colleen Lestician, Zhijin Carrie Xu, Zhihua Tina Fan, Shawn P. O'Leary, Ida K. Haugen, Jérémie Sellam, Alice Courties, Abby F. Fleisch   +14 more
wiley   +1 more source

Endocrinology of the hypothalamus and the pituitary gland [PDF]

, 1973
Kuhlendahl, Hans, Scriba, Peter Christian   +1 more
core   +1 more source