SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester

SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester

Haploinsufficiency of the transcription factor short stature homeobox (SHOX) manifests as a spectrum of clinical phenotypes, ranging from disproportionate short stature and Madelung deformity to isolated short stature. Here, we describe five infants with molecularly confirmed diagnoses of SHOX haplo...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Ramachandrappa, S, Kulkarni, A, Gandhi, H, Ellis, C, Hutt, R, Roberts, L, Hamid, R, Papageorghiou, A, Mansour, S
Định dạng:	Journal article
Ngôn ngữ:	English
Được phát hành:	Springer Nature 2018

Những quyển sách tương tự

The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells
Bằng: Tomoaki Yokokura, et al.
Được phát hành: (2017-06-01)

Expected‐value bias in routine third‐trimester growth scans
Bằng: Drukker, L, et al.
Được phát hành: (2019)

Isolated Short Femur Length in the Third Trimester
Bằng: Ipsa Shakya, et al.
Được phát hành: (2023-07-01)

Correlation between placental thickness in the second and third trimester and fetal weight
Bằng: Maryam Afrakhteh, et al.
Được phát hành: (2013-07-01)

Fetal abnormalities detected during third-trimester ultrasound for fetal growth
Bằng: Drukker, L, et al.
Được phát hành: (2021)

Kinematic Analysis of Gait in the Second and Third Trimesters of Pregnancy
Bằng: Marco Branco, et al.
Được phát hành: (2013-01-01)

Evaluation of Lipid Profile in Second and Third Trimester of Pregnancy
Bằng: Raghuram Pusukuru, et al.
Được phát hành: (2016-03-01)

SHOX deficiency in short Taiwanese children: A single-center experience
Bằng: Yi-Ching Tung, et al.
Được phát hành: (2018-10-01)

Study of bone metabolism in second and third trimesters of pregnancy and puerperal period in re-pregnant women
Bằng: Zhao Jue, Wang Hui, Qi Caixia, Wang Qiqi, Guo Xin
Được phát hành: (2023-10-01)

Increase in short telomeres during the third trimester in human placenta.
Bằng: Paula K Edelson, et al.
Được phát hành: (2022-01-01)

Increase in short telomeres during the third trimester in human placenta
Bằng: Paula K. Edelson, et al.
Được phát hành: (2022-01-01)

Short stature and SHOX (Short stature homeobox) variants—efficacy of screening using various strategies
Bằng: Pavlina Capkova, et al.
Được phát hành: (2020-11-01)

Knee X-Ray in Short Stature: Helpful Indicator to Diagnose SHOX Deficiency
Bằng: Partha Pratim Chakraborty, et al.
Được phát hành: (2017-01-01)

Gut microbiota dysbiosis in preeclampsia patients in the second and third trimesters
Bằng: Jing Wang, et al.
Được phát hành: (2020-05-01)

Ferritin Level Decreased between the Second and Third Trimester of Pregnancy
Bằng: Hermie MM. Tendean
Được phát hành: (2013-04-01)

Histological characteristics of the corpus luteum of Nelore cows in the first, second and third trimester of pregnancy
Bằng: P.R. Xavier, et al.
Được phát hành: (2012-04-01)

External validation of models to estimate gestational age in the second and third trimester using ultrasound: A prospective multicentre observational study
Bằng: Self, A, et al.
Được phát hành: (2024)

Clinical Evidence of Crossover in the SHOX Gene
Bằng: Emine Göktaş, et al.
Được phát hành: (2021-01-01)

Do Major Pharmacovigilance Databases Support Evidence of Second Trimester NSAID and Third Trimester Paracetamol Fetotoxicity?
Bằng: Katarina Dathe, et al.
Được phát hành: (2024-11-01)

Correlation between Body Mass Index and Lipid Profile in Second Trimester with Incidence of Hypertension in Third Trimester
Bằng: Ananto Prasetyo, et al.
Được phát hành: (2019-04-01)

Uterine Doppler velocimetry of the uterine arteries in the second and third trimesters for the prediction of gestational outcome
Bằng: Maryam Afrakhteh, et al.
Được phát hành: (2014-01-01)

First trimester plasma PER- AND Polyfluoroalkyl Substances (PFAS) and blood pressure trajectories across the second and third trimesters of pregnanacy
Bằng: Jordan A. Burdeau, et al.
Được phát hành: (2024-04-01)

Rare dosage abnormalities flanking the SHOX gene
Bằng: David J. Bunyan, et al.
Được phát hành: (2021-12-01)

Comment on: Effects of COVID-19 on human placentas in the second and third trimester
Bằng: Nayara Ribeiro Máximo de Almeida, et al.
Được phát hành: (2025-01-01)

Compensatory health beliefs in women in the first, second and third trimester of pregnancy
Bằng: Magdalena Mazur-Skupowska, et al.
Được phát hành: (2023-09-01)

Clinical Implications of Second and Third Trimester Surveillance Ultrasounds of Growth-Restricted Fetuses
Bằng: Amanda M. Craig, et al.
Được phát hành: (2021-10-01)

Fluctuation trend of inflammatory indexes related to gestational diabetes mellitus from second trimester to third trimester of pregnancy
Bằng: Mingming Xu, et al.
Được phát hành: (2024-10-01)

Audit of short term outcomes of surgical and medical second trimester termination of pregnancy
Bằng: Roberts Helen, et al.
Được phát hành: (2009-09-01)

SHOX and sex difference in height: a hypothesis
Bằng: Tsutomu Ogata, et al.
Được phát hành: (2025-01-01)

Detection of <italic>SHOX</italic> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Bằng: Semra Gürsoy, et al.
Được phát hành: (2020-12-01)

Correlation of blood sugar and lipid profile with first, second and third trimester of pregnancy
Bằng: Muhanad Salah Mawlood
Được phát hành: (2024-12-01)

Maternal cytokine profiles in second and early third trimester are not predictive of preterm birth.
Bằng: Kylie K Hornaday, et al.
Được phát hành: (2024-01-01)

Fetal Atrial Septal Aneurysm: Follow-Up from Second to Third Trimester
Bằng: Roxana Gireadă, et al.
Được phát hành: (2022-06-01)

Correlation of placental thickness with gestational age in second and third trimester using ultrasonography
Bằng: Kshitija Narayan Vinchurkar, et al.
Được phát hành: (2023-09-01)

Normograms in prenatal life of stomach and urinary bladder in the second and third trimesters of pregnancy
Bằng: Witkowski Sławomir, et al.
Được phát hành: (2022-07-01)

Wrist radiography for hand bone age tells a lot; a girl with SHOX deficiency
Bằng: Hüsnü Maraşlı, et al.
Được phát hành: (2022-12-01)

Erratum: Value of third‐trimester cerebroplacental ratio and uterine artery Doppler indices as predictors of stillbirth and perinatal loss
Bằng: Khalil, A, et al.
Được phát hành: (2016)

Maternal vitamin A and D status in second and third trimester of pregnancy and bone mineral content in offspring at nine years of age
Bằng: Astrid Kamilla Stunes, et al.
Được phát hành: (2024-06-01)

How often do we identify fetal abnormalities during routine third-trimester ultrasound? A systematic review and meta-analysis
Bằng: Drukker, L, et al.
Được phát hành: (2021)

Automatic nasal bone detection and measurement for second trimester fetus /
Bằng: 265721 Nik Mohamad Arif Jamaludin, et al.
Được phát hành: (2008)