Results 31 to 40 of about 19,235 (265)

Prenatal Screening for Rare Co-Inheritance of HbE and β-Thalassaemia Traits in Western India [PDF]

Journal of Clinical and Diagnostic Research, 2017
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices.
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao   +4 more
doaj   +1 more source

Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia. [PDF]

Journal of Medical Genetics, 1990
A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial hypobetalipoproteinaemia, but his father had a normal lipoprotein profile. This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
S, Keidar, A, Etzioni, J G, Brook, R, Gershoni-Baruch, M, Aviram   +4 more
openaire   +2 more sources

Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7

Case Reports in Dermatology, 2020
Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK.
Chankiat Songsantiphap, Jirat Suwanwatana, Chupong Ittiwut, Pravit Asawanonda, Pawinee Rerknimitr, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

Inferring compound heterozygosity from large-scale exome sequencing data

Nature Genetics, 2023
AbstractRecessive diseases arise when both the maternal and the paternal copies of a gene are impacted by a damaging genetic variant in the affected individual. When a patient carries two different potentially causal variants in a gene for a given disorder, accurate diagnosis requires determining that these two variants occur on different copies of the
Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, Julia K. Goodrich, Nicholas A. Watts, Moriel Singer-Berk, Emily Groopman, Philip W. Darnowsky, Matthew Solomonson, Samantha Baxter, Maria Abreu, Carlos A. Aguilar Salinas, Tariq Ahmad, Christine M. Albert, Jessica Alföldi, Diego Ardissino, Irina M. Armean, Gil Atzmon, Eric Banks, John Barnard, Samantha M. Baxter, Laurent Beaugerie, Emelia J. Benjamin, David Benjamin, Louis Bergelson, Michael Boehnke, Lori L. Bonnycastle, Erwin P. Bottinger, Donald W. Bowden, Matthew J. Bown, Steven Brant, Sarah E. Calvo, Hannia Campos, John C. Chambers, Juliana C. Chan, Katherine R. Chao, Sinéad Chapman, Daniel Chasman, Siwei Chen, Rex L. Chisholm, Judy Cho, Rajiv Chowdhury, Mina K. Chung, Wendy K. Chung, Kristian Cibulskis, Bruce Cohen, Ryan L. Collins, Kristen M. Connolly, Adolfo Correa, Miguel Covarrubias, Beryl Cummings, Dana Dabelea, John Danesh, Dawood Darbar, Joshua Denny, Stacey Donnelly, Ravindranath Duggirala, Josée Dupuis, Patrick T. Ellinor, Roberto Elosua, James Emery, Eleina England, Jeanette Erdmann, Tõnu Esko, Emily Evangelista, Yossi Farjoun, Diane Fatkin, Steven Ferriera, Jose Florez, Andre Franke, Martti Färkkilä, Stacey Gabriel, Kiran Garimella, Laura D. Gauthier, Jeff Gentry, Gad Getz, David C. Glahn, Benjamin Glaser, Stephen J. Glatt, David Goldstein, Clicerio Gonzalez, Leif Groop, Sanna Gudmundsson, Namrata Gupta, Andrea Haessly, Christopher Haiman, Ira Hall, Craig Hanis, Matthew Harms, Mikko Hiltunen, Matti M. Holi, Christina M. Hultman, Chaim Jalas, Thibault Jeandet, Mikko Kallela, Diane Kaplan, Jaakko Kaprio, Sekar Kathiresan, Eimear Kenny, Bong-Jo Kim, Young Jin Kim, George Kirov, Zan Koenig, Jaspal Kooner, Seppo Koskinen, Harlan M. Krumholz, Subra Kugathasan, Soo Heon Kwak, Markku Laakso, Nicole Lake, Trevyn Langsford, Kristen M. Laricchia, Terho Lehtimäki, Monkol Lek, Emily Lipscomb, Christopher Llanwarne, Ruth J. F. Loos, Steven A. Lubitz, Teresa Tusie Luna, Ronald C. W. Ma, Gregory M. Marcus, Jaume Marrugat, Alicia R. Martin, Kari M. Mattila, Steven McCarroll, Mark I. McCarthy, Jacob McCauley, Dermot McGovern, Ruth McPherson, James B. Meigs, Olle Melander, Andres Metspalu, Deborah Meyers, Eric V. Minikel, Braxton D. Mitchell, Vamsi K. Mootha, Ruchi Munshi, Aliya Naheed, Saman Nazarian, Peter M. Nilsson, Sam Novod, Anne H. O’Donnell-Luria, Michael C. O’Donovan, Yukinori Okada, Dost Ongur, Lorena Orozco, Michael J. Owen, Colin Palmer, Nicholette D. Palmer, Aarno Palotie, Kyong Soo Park, Carlos Pato, Nikelle Petrillo, William Phu, Timothy Poterba, Ann E. Pulver, Dan Rader, Nazneen Rahman, Alex Reiner, Anne M. Remes, Dan Rhodes, Stephen Rich, John D. Rioux, Samuli Ripatti, David Roazen, Dan M. Roden, Jerome I. Rotter, Valentin Ruano-Rubio, Nareh Sahakian, Danish Saleheen, Veikko Salomaa, Andrea Saltzman, Nilesh J. Samani, Jeremiah Scharf, Molly Schleicher, Heribert Schunkert, Sebastian Schönherr, Eleanor Seaby, Cotton Seed, Svati H. Shah, Megan Shand, Moore B. Shoemaker, Tai Shyong, Edwin K. Silverman, Pamela Sklar, J. Gustav Smith, Jonathan T. Smith, Hilkka Soininen, Harry Sokol, Rachel G. Son, Jose Soto, Tim Spector, Christine Stevens, Nathan Stitziel, Patrick F. Sullivan, Jaana Suvisaari, E. Shyong Tai, Michael E. Talkowski, Yekaterina Tarasova, Kent D. Taylor, Tiinamaija Tuomi, James S. Ware, Benjamin M. Neale, Joel N. Hirschhorn, Heidi L. Rehm, Mark J. Daly, Anne O’Donnell-Luria, Konrad J. Karczewski, Daniel G. MacArthur, Kaitlin E. Samocha   +209 more
openaire   +3 more sources

Compound Heterozygous Variants in Pediatric Cancers: A Systematic Review

Frontiers in Genetics, 2020
A compound heterozygous (CH) variant is a type of germline variant that occurs when each parent donates one alternate allele and these alleles are located at different loci within the same gene.
Dustin B. Miller, Stephen R. Piccolo
doaj   +1 more source

Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency [PDF]

Blood, 1992
Abstract Erythrocyte bisphosphoglycerate mutase (BPGM) deficiency is a rare disease associated with a decrease in 2,3-diphosphoglycerate concentration. A complete BPGM deficiency was described in 1978 by Rosa et al (J Clin Invest 62:907, 1978) and was shown to be associated with 30% to 50% of an inactive enzyme detectable by specific ...
V, Lemarchandel, V, Joulin, C, Valentin, R, Rosa, F, Galactéros, J, Rosa, M, Cohen-Solal   +6 more
openaire   +3 more sources

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency

JHEP Reports, 2023
Background & Aims: Bile salt export pump (BSEP) deficiency frequently necessitates liver transplantation in childhood. In contrast to two predicted protein truncating mutations (PPTMs), homozygous p.D482G or p.E297G mutations are associated with ...
Antonia Felzen, Daan B.E. van Wessel, Emmanuel Gonzales, Richard J. Thompson, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Esra Polat, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer-Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Enke Grabhorn, Steffen Hartleif, Wendy J. van der Woerd, Binita M. Kamath, Jian-She Wang, Liting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez-Rivera, Seema Alam, Mara Cananzi, Noemie Laverdure, Cristina Targa Ferreira, Felipe Ordoñez Guerrero, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey-Ling Chen, Elisa de Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Aglaia Zellos, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Simon Horslen, Kathleen Schwarz, Jorge A. Bezerra, Kasper Wang, Bettina E. Hansen, Henkjan J. Verkade   +71 more
doaj   +1 more source

Somatic mosaicism and compound heterozygosity in female hemophilia B [PDF]

Blood, 2000
Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5′ splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one.
J M, Costa, D, Vidaud, I, Laurendeau, M, Vidaud, E, Fressinaud, J P, Moisan, A, David, D, Meyer, J M, Lavergne   +8 more
openaire   +3 more sources

HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case

Frontiers in Genetics, 2020
HFE-related Hemochromatosis is the most common genetic iron overload disease in European populations, particularly of Nordic or Celtic ancestry.
Wei Zhang, Wei Zhang, Wei Zhang, Xiaoming Wang, Xiaoming Wang, Xiaoming Wang, Weijia Duan, Weijia Duan, Weijia Duan, Anjian Xu, Anjian Xu, Anjian Xu, Xinyan Zhao, Xinyan Zhao, Xinyan Zhao, Jian Huang, Jian Huang, Jian Huang, Jian Huang, Hong You, Hong You, Hong You, Pierre Brissot, Xiaojuan Ou, Xiaojuan Ou, Xiaojuan Ou, Jidong Jia, Jidong Jia, Jidong Jia   +28 more
doaj   +1 more source

Neonatal screening for biotinidase deficiency: A 30-year single center experience

Molecular Genetics and Metabolism Reports, 2017
We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency ...
Francesco Porta, Veronica Pagliardini, Isabella Celestino, Enza Pavanello, Severo Pagliardini, Ornella Guardamagna, Alberto Ponzone, Marco Spada   +7 more
doaj   +1 more source