Results 151 to 160 of about 36,492 (239)

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

The Management of Congenital Cytomegalovirus Infection in an Era of Universal Newborn CMV Screening

Reviews in Medical Virology, Volume 36, Issue 3, May 2026.
ABSTRACT The most common infectious disease responsible for paediatric developmental disability is congenital infection with human cytomegalovirus (cCMV). Many serious sequelae are caused by cCMV, including microcephaly, intracranial calcifications, neuronal migration defects, seizure disorders, developmental delay, and sensorineural hearing loss (SNHL)
Emily R. Harrison, W. Charles Huskins, Mark R. Schleiss   +2 more
wiley   +1 more source

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. [PDF]

Eur J Hum Genet, 2020
Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL.   +29 more
europepmc   +1 more source

Heart Rate Variability in Newborns From Diabetic Mothers: Clinical Application and Significance

Annals of Noninvasive Electrocardiology, Volume 31, Issue 3, May 2026.
Risk factors for GDM contribute to a hyperglycemic intrauterine environment, which may in turn impair ANS function in the offspring. Altered ANS activity can be assessed through measures such as HRV. ABSTRACT Gestational diabetes mellitus (GDM) is one of the most common pregnancy complications, arising from inadequate insulin secretion and increased ...
Virginia Beretta, Laura Cannavò, Sebastiano Ravenda, Chiara Petrolini, Vincenzo Raitano, Sabrina Moretti, Valentina Dell'Orto, Serafina Perrone   +7 more
wiley   +1 more source

Microcephaly - congenital cytomegalovirus infection

, 2021
openaire   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, Volume 109, Issue 5, Page 859-868, May 2026.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 ‐Related Phenotype

Clinical Genetics, Volume 109, Issue 5, Page 972-977, May 2026.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

MICROCEPHALY– A NEURODEVELOPMENTAL HEREDITARY DISORDER WITH EMERGING DRIFTS OF ZIKV

FUUAST Journal of Biology, 2018
Autosomal recessive primary microcephaly (MCPH) is a rare, congenital, neurological condition with atavistic phenotype, usually distinguished by reduction in occipito-frontal head circumference strongly correlated with decreased cognitive capacity ...
RABIA BIBI, AYESHA MAQBOOL, SAMEA KHAN, JANGREZ KHAN   +3 more
doaj  

Elevated serum aminotransferases in an infant with failure to thrive: A clinicopathological case report

JPGN Reports, Volume 7, Issue 2, Page 340-348, May 2026.
Jamie M. Klapp, Lauren Nichols, Nicholas J. Gloude, Amber Hildreth, Kathleen B. Schwarz   +4 more
wiley   +1 more source

Expanding the mutational spectrum of congenital microcephaly in Pakistani families. [PDF]

Front Genet
Farooq S, Asif M, Abbasi AA, Latif Z, Ku B, Makhdoom EUH, Shadab M, Khan MA, Muzammal M, Waqar R, Nisar R, Khan FS, Aslam S, Schweiger MR, Hussain MS.   +14 more
europepmc   +1 more source