Results 51 to 60 of about 36,492 (239)

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

Zika-exposed microcephalic neonates exhibit higher degree of inflammatory imbalance in cerebrospinal fluid

Scientific Reports, 2021
Not every neonate with congenital Zika virus (ZIKV) infection (CZI) is born with microcephaly. We compared inflammation mediators in CSF (cerebrospinal fluid obtained from lumbar puncture) between ZIKV-exposed neonates with/without microcephaly (cases ...
Gustavo C. Nascimento-Carvalho, Eduardo C. Nascimento-Carvalho, Clara L. Ramos, Ana-Luisa Vilas-Boas, Otávio A. Moreno-Carvalho, Caian L. Vinhaes, Beatriz Barreto-Duarte, Artur T. L. Queiroz, Bruno B. Andrade, Cristiana M. Nascimento-Carvalho   +9 more
doaj   +1 more source

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations [PDF]

, 2013
Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) (MIM No.152950) is a rare autosomal dominant condition for which a causative gene has recently been identified.
AL Jarmas, Angela F Brady, Anthony T Moore, Barbara Mikat, BJ Lee, C Limwongse, C Prattichizzo, CG Woods, Christine Coubes, D Abuelo, DA Custer, Dagmar Wieczorek, Denise Williams, EG Puffenberger, F Hazan, FC Connell, Filiz Hazan, Fiona C Connell, Florence Petit, Gabriela E Jones, Glen Brice, GM Abdel-Salam, H Dolk, I Casteels, ID Young, Isabel Spier, KM Trzupek, Kristiana Gordon, LO Atchaneeyasakul, M Baraitser, M Feingold, N Pastora, Oana Moldovan, Oliver Quarrell, P Ostergaard, PC Vasudevan, Peter S Mortimer, Pia Ostergaard, Pradeep C Vasudevan, Q Zhao, R Hordijk, RM Winter, Robert A Saul, S Eventov-Friedman, S Strenge, Sahar Mansour, Steve Jeffery, VA McKusick, WF Milroy   +48 more
core   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Microcephaly in South Brazil: Are cases of Congenital Zika Syndrome increasing in recent years?

Genetics and Molecular Biology
Northeast Brazil was the first region to detect a significant increase in babies born with microcephaly associated with prenatal zika virus infection in 2015.
Anna Pires Terra, Ricardo Rohweder, Silvani Herber, Luciana Friedrich, Maria Teresa Vieira Sanseverino, Catia Favreto, Fernanda Santa Maria, Emilly de Jesus Athayde, Laércio Moreira Cardoso-Júnior, Andrea Cristina Pereira Marinho, Allanamara Pereira Marinho, Tailine Zarpelon, Lavínia Schuler-Faccini   +12 more
doaj   +1 more source

Burden of disease due to microcephaly associated with the Zika virus in Colombia [PDF]

Cadernos de Saúde Pública
In 2015, the Zika virus was introduced in Colombia. The emergence of this arbovirus is a public health challenge for the country, considering the association between the infection and congenital disorders such as microcephaly.
Andrés Felipe Mora-Salamanca, Alexandra Porras-Ramírez, Fernando Pío de la Hoz Restrepo   +2 more
doaj   +2 more sources

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif, Ajay Kaul, Lev Dorfman, Khalil El‐Chammas   +3 more
wiley   +1 more source

Ultrasound prediction of Zika virus-associated congenital injury using the profile of fetal growth.

PLoS ONE, 2020
Zika virus (ZIKV) is a mosquito-transmitted flavivirus, recently linked to microcephaly and central nervous system anomalies following infection in pregnancy. Striking findings of disproportionate growth with a smaller than expected head relative to body
Christie L Walker, Noah Ehinger, Brittney Mason, Elizabeth Oler, Marie-Térèse E Little, Eric O Ohuma, Aris T Papageorghiou, Unzila Nayeri, Christine Curry, Kristina M Adams Waldorf   +9 more
doaj   +1 more source

A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2019
Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataracts, patent ductus arteriosus, hearing loss, microcephaly, thrombocytopenia, and severe fetal injury.
Hüseyin Anıl Korkmaz, Çağatay Ermiş
doaj   +1 more source

First Korean Case of 5q35.2q35.3 Microduplication With Reversed Sotos Syndrome Phenotype and Growth Hormone Deficiency: Expanding the Endocrine Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an overgrowth disorder caused by nuclear receptor binding SET domain protein 1 (NSD1) haploinsufficiency, whereas reciprocal 5q35.2q35.3 microduplication produces a reversed phenotype with growth retardation, microcephaly, delayed bone age, and neurodevelopmental delay.
Sejin Kim, Jung Sook Ha, Jun Chul Byun
wiley   +1 more source