Results 51 to 60 of about 59,265 (243)

Growth Standards for Children With Smith–Magenis Syndrome (SMS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 (RAI1) gene either by a pathogenic sequence variant or deletion at chromosome 17p11.2 involving a portion or all of this gene.
Julie Hoover‐Fong, John McGready, Leah Fleming, Kerry Schulze, Folami Duncan, Alexis Leonard, Marie Christine de Blois Boucard, Danilo Moretti‐Ferreira, Andrea L. Gropman, Wendy J. Introne, Ann C. M. Smith   +10 more
wiley   +1 more source

CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B

Scientific Reports, 2022
Mutations in the MYO7A gene lead to Usher syndrome type 1B (USH1B), a disease characterized by congenital deafness, vision loss, and balance impairment.
Junghyun Ryu, John P. Statz, William Chan, Fernanda C. Burch, John V. Brigande, Beth Kempton, Edward V. Porsov, Lauren Renner, Trevor McGill, Benjamin J. Burwitz, Carol B. Hanna, Martha Neuringer, Jon D. Hennebold   +12 more
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Late-Onset Sepsis in a Premature Infant Mediated by Breast Milk: Mother-to-Infant Transmission of Group B Streptococcus Detected by Whole-Genome Sequencing

Infection and Drug Resistance, 2022
Aiyun Li,1,* Ming Fang,2,* Dongjie Hao,1 Qiaoai Wu,1 Yaqi Qian,1 Hao Xu,3,4 Bo Zhu1 1Department of Clinical Medicine, The Women’s Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, People’s Republic of China; 2Institute of ...
Li A, Fang M, Hao D, Wu Q, Qian Y, Xu H, Zhu B   +6 more
doaj  

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Pregnancy Outcomes in Women With Systemic Sclerosis Before and/or After Diagnosis and by Parity: A Swedish Population‐Based Cohort Study

Arthritis &Rheumatology, EarlyView.
Objective To assess risks of adverse pregnancy outcomes (APOs) in a contemporary cohort of women with systemic sclerosis (SSc) in relation to the timing of SSc diagnosis and by parity. Methods From the nationwide Swedish Medical Birth Register, we assembled pregnancies with births in women with SSc and in comparator women from the general population ...
Weng Ian Che, Luigi Annicchiarico, Laura Andreoli, Olof Stephansson, Marie Holmqvist, Karin Hellgren   +5 more
wiley   +1 more source

Serious Infections in Offspring Exposed to Tumour Necrosis Factor Inhibitors During Pregnancy: Comparison of Timing During Pregnancy and Placental Transfer Ability

Arthritis &Rheumatology, Accepted Article.
Objective We evaluated serious infection risk in offspring exposed to tumour necrosis factor inhibitors (TNFi) in utero, separated by TNFi timing and placental transfer ability. Methods Using MarketScan (2011‐2021), we identified offspring born to mothers with chronic inflammatory diseases.
Leah K. Flatman, Sasha Bernatsky, Yvan St‐Pierre, Marie‐Eve Beauchamp, Isabelle Malhamé, Anick Bérard, Évelyne Vinet   +6 more
wiley   +1 more source

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source