Results 221 to 230 of about 482,319 (343)

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

The Prognostic Significance of Proteinuria Severity in Pregnancy: A Retrospective Cohort Study of Maternal and Neonatal Outcomes. [PDF]

J Clin Med
Boza B, Ersan F, Alpay V, Erenel H.
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Antipsychotic drug use during pregnancy and neonatal outcomes: a systematic review and meta-analysis. [PDF]

Arch Womens Ment Health
Quinn D, Donnelly M, O'Neill C.
europepmc   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Effect of the COVID-19 lockdown in Shanghai on maternal and neonatal outcomes. [PDF]

BMC Pregnancy Childbirth
Chen X, Jin C, Xue Y, Zhang T, Li J, Jin C.   +5 more
europepmc   +1 more source

Can we predict adverse neonatal outcome in fetal growth restriction near term? [PDF]

, 2006
Patrizia Vergani, Nadia Roncaglia, Alessandro Ghidini, Isabella Crippa, Camilla Andreotti, Francesca Della Sala, John C. Pezzullo   +6 more
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Maternal and neonatal outcomes following metabolic bariatric surgery in the United Arab Emirates. [PDF]

BMC Pregnancy Childbirth
Al Mansoori A, Bataineh MF, Al Momani H, Al Dhaheri AS, Ismail LC, Stojanovska L, Ali HI.   +6 more
europepmc   +1 more source

Maternal and neonatal outcomes in placenta accreta spectrum: Influence of antenatal diagnosis and surgical strategy [PDF]

Lumayat Orujova, Rauf Melekoğlu, Ercan Yılmaz, Halis Özdemir, Şeyma Yaşar   +4 more
openalex   +1 more source