Results 41 to 50 of about 16,136 (213)

Statistical Methodology for Estimating Twin Similarity for Count Data [PDF]

The Egyptian Statistical Journal, 2012
An approach for estimating twin similarity for the case of count data is proposed. Themethodology focuses on the Intracluster Correlation Coefficient (ICC) as the parameter ofinterest.
Marwa Abdel Gawad Ahmed
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Human leukocyte antigen class II gene diversity tunes antibody repertoires to common pathogens

Frontiers in Immunology, 2022
Allelic diversity of human leukocyte antigen (HLA) class II genes may help maintain humoral immunity against infectious diseases. In this study, we investigated germline genetic variation in classical HLA class II genes and employed a systematic ...
Taushif Khan, Mahbuba Rahman, Ikhlak Ahmed, Fatima Al Ali, Puthen Veettil Jithesh, Puthen Veettil Jithesh, Nico Marr, Nico Marr   +7 more
doaj   +1 more source

Definitive Zygosity Scores in the Peas in the Pod Questionnaire is a Sensitive and Accurate Assessment of the Zygosity of Adult Twins [PDF]

, 2018
Twin researchers face the challenge of accurately determining the zygosity of twins for research. As part of the annual questionnaire between 1999 and 2006, 8,307 twins from the TwinsUK registry were asked to complete five questions (independently from ...
Irina Gillham-Nasenya, Christopher J. Hammond, Deborah Hart, Gillham-Nasenya, Irina, Raj Gill, Jarrar, Zakariya A., Spector, Tim D., Massimo Mangino, Cherkas, Lynn F., Lynn F. Cherkas, Darioush Yarand, Kirsten J. Ward, Ward, Kirsten J., Hammond, Christopher J., Zakariya A. Jarrar, Hart, Deborah; id_orcid, Gill, Raj, Yarand, Darioush, Tim D. Spector, Mangino, Massimo   +19 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Rapid detection of phenotypes Bombay se del and nonsecretor rs200157007 SNP (302C > T) by real-time PCR-based methods

Scientific Reports, 2021
The se del allele is one of the nonsecretor alleles (se) of FUT2 generated by an Alu-mediated recombination event and was first found in Indian Bombay phenotype individuals who have anti-H, anti-A, and anti-B antibodies in their serum. As well as anti-A,
Mikiko Soejima, Yoshiro Koda
doaj   +1 more source

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger, Periyasamy Radhakrishnan, Suma Balan, Anand P. Rao, Prajna Udupa, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Sanket Limaye, Huzail Gani Shaikh, Rohit Naik, Mahesh Janarthanan, Sudharshan Sridharan, Vishal Sondhi, Sheela Nampoothiri, Hitesh Shah, Sabrinath Mahadevan, Mahabaleshwar Mamadapur, Devang Pandya, Katta Mohan Girisha, Abhay Shivpuri, Amita Moirangthem, Jyothi Raghuram, Gandham Sri Lakshmi Bhavani, Sachin Jeevanagi, Girish Subramaniam, Amita Aggarwal, Anju Shukla, Dhanya Lakshmi Narayanan   +28 more
wiley   +1 more source

Zygosity Determination in Twin Studies: A Validation of Zygosity Questionnaires Using DNA in the German TwinLife Study. [PDF]

, 2017
Lenau F, Hahn E, Peters A-L, Gottschling J, Thiel W, Spinath FM. Zygosity Determination in Twin Studies: a Validation of Zygosity Questionnaires Using DNA in the German TwinLife Study. TwinLife Working Paper Series. Vol 01.
Lenau, Franziska, Spinath, Frank M., Lenau, F., GOTTSCHLING, Juliana, Hahn, E., Spinath, F. M., Hahn, Elisabeth, Peters, Anna-Lena, Thiel, W., Peters, A.-L., Thiel, Wolfgang   +10 more
core  

Zygosity Diagnosis in the Absence of Genotypic Data: An Approach Using Latent Class Analysis [PDF]

, 2003
For zygosity diagnosis in the absence of genotypic data, or in the recruitment phase of a twin study where only single twins from same-sex pairs are being screened, or to provide a test for sample duplication leading to the false identification of a ...
Montgomery, Grant W., Nyholt, Dale R., Bucholz, Kathleen K., Nelson, Elliot C., Heath, Andrew C., Neuman, Rosalind, Martin, Nicholas G., Todd, Richard D., Madden, Pamela A. F.   +8 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source