Results 201 to 210 of about 7,612,532 (282)

Successful term pregnancy after renal transplant in end-stage renal disease with complement factor H-related mutation: A case report. [PDF]

World J Transplant
Balwani MR, Pasari A, Kashiv P, Shembekar C, Shembekar M, Dubey S, Jeyachandran V, Malde S, Gupta S, Pawar T, Tolani P, Kurundwadkar M, Gurjar P, Sejpal K, Bawankule C, Kute VB.   +15 more
europepmc   +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

Early gestational prediction of spontaneous preterm birth using a validated three-protein serum biomarker panel. [PDF]

BMC Med
Luo Q, Wei J, Ding Y, Chen Y, Wu L, Chou CJ, Luo X, Ghafourian N, Tao J, Jin B, Su KJ, Mortensen RD, Schilling J, Han Z, Ozawa N, Ichikawa T, Luo RY, Sylvester KG, Ceresnak SR, Wong RJ, Tian L, Marić I, Aghaeepour N, Gaudilliere B, Angst MS, Shaw GM, McElhinney D, Cohen HJ, Darmstadt GL, Niu J, Stevenson DK, Ling XB.   +31 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Impact of Maternal Diabetes in Pregnancy on Newborn IgG Antibody Repertoire and Infection Risk in the First 6 Months of Life. [PDF]

Diabetes Care
Wang G, Ruczinski I, Larman HB, Gutierrez MJ, Frischmeyer-Guerrerio PA, Hong X, Ji H, Pearson C, Adams WG, Wang X.   +9 more
europepmc   +1 more source

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Exploratory Urinary Proteomic Profiling in Pregnancies with Fetal Aneuploidies: Molecular Insights into Maternal-Fetal Metabolic Communication. [PDF]

Curr Issues Mol Biol
Jurca RL, Soporan MA, Pralea IE, Gheorghiu I, Rus I, Stamatian F, Iuga CA.   +6 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

The placental battlefield: viral strategies and immune countermeasures. [PDF]

Front Immunol
Dhar R, Singh S, Sahoo OS, Chandra N, Gul A, Mukherjee I, Karmakar S, Amanullah M, Karmakar S.   +8 more
europepmc   +1 more source