Results 311 to 320 of about 1,874,469 (397)

TBX3‐ Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Unravelling some factors affecting sexual reproduction in rock-specialist shrub: Insight from an endemic Daphne arbuscula (Thymelaeaceae). [PDF]

PLoS One
Gajdošová Z, Šlenker M, Svitok M, Šrámková G, Blanár D, Cetlová V, Kučera J, Turisová I, Turis P, Slovák M.   +9 more
europepmc   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Estimating the rate of sexual reproduction and the inbreeding rate inLeishmania

Nicoll AG, Kilford H, Grace CA, Reis-Cunha JL, Jeffares DC, Constable GWA.   +5 more
europepmc   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie, Xinyi Xu, Junhao Chen, Huiling Chen, Meng Li, Yang Zhang, Zhiwei Li, Chen Shen, Jie Wen, Xia Cao   +9 more
wiley   +1 more source

Correction: Bo et al. Atg5 Regulates Selective Autophagy of the Parental Macronucleus during Tetrahymena Sexual Reproduction. Cells 2021, 10, 3071. [PDF]

Cells
Bo T, Kang Y, Liu Y, Xu J, Wang W.
europepmc   +1 more source

Reproduction, Heredity and Sexuality [PDF]

, 1964
openaire   +2 more sources

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Identification and Functional Exploration of BraGASA Genes Reveal Their Potential Roles in Drought Stress Tolerance and Sexual Reproduction in Brassica rapa L. ssp. pekinensis. [PDF]

Int J Mol Sci
Zhao Y, Sun X, Zhou J, Liu L, Huang L, Hu Q.   +5 more
europepmc   +1 more source

Sexual reproduction and aggressiveness of Phaeosphaeria nodorum Hedj (= Septoria nodorum Berk)

, 1992
F. Rapilly, M. Skajennikoff, Patrice Halama, G. Touraud   +3 more
openalex   +1 more source