Results 161 to 170 of about 1,225,648 (255)

Domesticated bacterial origin genes regulate homeostasis of the insect gut microbiome and empower adaptation

iMeta, EarlyView.
Horizontal gene transfer introduced bacterial CDC genes into the leafhopper genome, providing genetic material for subsequent evolutionary innovation. Different CDC copies diversified at the sequence, structural, and functional levels. RdCDC3 retained its ancestral pore‐forming activity and was recruited for egg defense, whereas RdCDC9 lost its ...
Zhenjia Zhang, Yubo Zhang, Kun Zhao, Guangyuan Cheng, Zhihao Lu, Dongju Wang, Yiqun Liu, Jianguo Wu, Liying Wang, Lisheng Zhang, Xinhai Ye, Li Yu, Wei Zhang, Yi Li   +13 more
wiley   +1 more source

​Autosomal Dominant [PDF]

, 2019
openaire   +1 more source

Combined Karyotyping, Copy Number Variation Sequencing, and Whole Exome Sequencing in the Prenatal Diagnosis of Congenital Heart Disease: Detection Rates and Phenotypic Associations

Journal of Clinical Laboratory Analysis, EarlyView.
This study combined karyotyping, copy number variation sequencing, and whole‐exome sequencing to assess the value of genetic testing in the prenatal diagnosis of congenital heart disease (CHD) and to evaluate the relationship between genetic variants and prenatal phenotypes.
Jieqiong Xie, Yanru Huang, Xingmei Yao, Lutan Zhang, Yixi Zhou, Wenbo Wang, Jian Zhang, Yunsheng Ge   +7 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East

JPGN Reports, EarlyView.
Abstract Objectives Monogenic causes of congenital diarrheas and enteropathies (CoDE) and very early onset inflammatory bowel disease (VEOIBD) are mostly recessive and therefore more prevalent in populations with increased consanguinity rates. To assess the genetic basis of these disorders in a likely high‐prevalence population, we established a multi ...
Lily Gillette, Muna Al Safar, Ganeshwaran H. Mochida, Casey Johnson, Stephen Babcock, Klaus Schmitz‐Abe, Michael Field, Jessica Yang, Richelle Bearup, Ahmed Megahed, Mohammed Ezz El Regal Abbas, Tarek Baraket, Sherine Elziny, Ali Sobh, Gulin Eren, Fawaz AlRefaee, Rana Bitar, Mohamed Miqdady, Pankaj B. Agrawal, Scott B. Snapper, Jay R. Thiagarajah, Jodie Ouahed   +21 more
wiley   +1 more source

Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis

Haematologica, 2002
F Fabris, F Fagioli, G Basso, A Girolami
doaj  

Genetic sequencing of children with malrotation and midgut volvulus: A cross‐sectional study

JPGN Reports, EarlyView.
Abstract Objectives Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra‐short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated ...
Jonathan A. Salazar, Shira Rockowitz, Courtney E. French, Wanqing Shao, Daniel M. Elman, Alexandra N. Carey, Tom Jaksic, Piotr Sliz, Wen Hann Tan, Christopher P. Duggan   +9 more
wiley   +1 more source

Pediatric hereditary angioedema presenting as recurrent episodic abdominal pain and vomiting: Challenges in diagnosis and management

JPGN Reports, EarlyView.
Abstract Recurrent episodic abdominal pain and vomiting, with symptom‐free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions. We present the challenging diagnostic odyssey
Julio Nestor Busaniche, Jhoanna Valery Adauto Luizaga, Maria Soledad Arcucci, Claudio Alberto Salvador Parisi, Judith Cohen Sabban, Agustina Venditti, Valentina Riveros, Giancarlo Testa, Veronica Busoni   +8 more
wiley   +1 more source

Alagille syndrome- A rare autosomal dominant disorder [PDF]

Al Ameen Journal of Medical Sciences, 2018
Rizwan-U-Zama, Nazeer Ahmad Jeergal, Naushad Ali N. Malagi, Ravindra G. Naganoor, Syeda Umme Uzra Kaleem   +4 more
doaj  

Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease

JPGN Reports, EarlyView.
Abstract Very early onset inflammatory bowel disease (VEO‐IBD), defined as diagnosis before 6 years of age, is often associated with immune dysregulation and monogenic etiologies; however, infectious mimics may be overlooked in low‐prevalence regions. We report a 4‐year‐old male with poor weight gain, intermittent diarrhea, elevated fecal calprotectin,
Rasha Abi Radi Abou Jaoudeh, Cary Sauer, Teresa Oh   +2 more
wiley   +1 more source