Results 81 to 90 of about 341,333 (296)

Evaluating the safety and outcomes of third-trimester selective termination in dichorionic twin pregnancies with discordant anomalies—a standardized approach for counseling

Archives of Gynecology and Obstetrics
Objective To evaluate procedure-related preterm birth (PTB) following third-trimester selective termination (ST) in DC twins and to compare delivery timing with expectantly managed discordant DC twins and non-anomalous DC twins.
Adeline Walter, Anne Flöck, Jorge Jiménez-Cruz, Brigitte Strizek, Ulrich Gembruch, Annegret Geipel   +5 more
doaj   +1 more source

A physiological study of the prenatal development of cutaneous sensory inputs to dorsal horn cells in the rat. [PDF]

, 1991
Maria Fitzgerald
openalex   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti, Carlotta Pia Cristalli, Francesca Montanari, Luca Caramanna, Francesco Modestino, Irene Capelli, Valeria Aiello, Sarah Lerario, Cecilia Evangelisti, Iria Neri, Eugenio Brunocilla, Cesare Rossi, Marco Seri, Daniela Turchetti, Giovanni Innella   +14 more
wiley   +1 more source

The EXIT for Prenatally Diagnosed Cervical Cystic Teratoma: A Case Report [PDF]

, 2015
Sabri Cansaran, Ayşenur Cerrah Celayir, Serdar Moralıoğlu, Habibe Ayvacı, Semih Tuğrul, Fahri Ovalı, Handan Çetiner   +6 more
openalex   +1 more source

Association of prenatal Cleft Lip and Palate ultrasound abnormalities with copy number variants at a single Chinese tertiary center

Italian Journal of Pediatrics
Backgroud A systematic analysis was conducted to investigate the molecular etiology of fetal cleft lip and/or palate (CL/P) and the association between various types of CL/P and copy number variations (CNVs), as well as their impact on birth outcomes ...
Shujuan Yan, Qiuxia Yu, Hang Zhou, Ruibin Huang, You Wang, Chunling Ma, Fei Guo, Fang Fu, Ru Li, Fucheng Li, Xiangyi Jin, Li Zhen, Min Pan, Dongzhi Li, Can Liao   +14 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Association of Timing and Duration of Prenatal Analgesic Opioid Exposure With Attention-Deficit/Hyperactivity Disorder in Children [PDF]

, 2021
Johanne Naper Trønnes, Angela Lupattelli, Marte Handal, Svetlana Skurtveit, Eivind Ystrøm, Hedvig Nordeng   +5 more
openalex   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Medical student training with next-generation handheld ultrasound devices – hands on examination of fetal biometry in obstetrics

BMC Medical Education
Introduction The technical development of ultrasound devices based on silicon chips has revolutionized ultrasound examinations, leading to the implementation of these portable handheld devices (PUD) in different medical fields. However, training on these
Ruben Plöger, Julia Matschl, Adeline Walter, Ulrich Gembruch, Brigitte Strizek, Charlotte Behning, Agnes Wittek, Florian Recker   +7 more
doaj   +1 more source