22,094 results match your criteria: "Consanguinity"

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A dynastic elite in monumental Neolithic society.
Lara M Cassidy, Ros Ó Maoldúin, Thomas Kador, Ann Lynch, Carleton Jones

Nature· June 2020

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Neanderthal-Denisovan ancestors interbred with a distantly related hominin.
Alan R Rogers, Nathan S Harris, Alan A Achenbach

February 2020

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Genetic evidence for archaic admixture in Africa.
Michael F Hammer, August E Woerner, Fernando L Mendez, Joseph C Watkins, Jeffrey D Wall

September 2011

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A novel candidate missense variant in the catalytic domain of USP26 associated with asthenoteratozoospermia.
Seyedeh Zahra Mousavi, Masomeh Askari, Ken McElreavey, Anu Bashamboo, Najmeh Salehi

Gene· December 2025

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Epidemiological perspectives on SLE and APS in MENA: Burden, barriers, and a path toward improved outcomes.
Rajaie Namas, Sarah Al Qassimi, Ahlam Almarzooqi

Lupus· December 2025

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Combined exome and RNA-seq analysis in patients with rare non-syndromic inherited brain arteriovenous malformation suggests a novel function for PTPN13 in arterial specification.
Simona Alibrandi, Domenico Mordà, Antonino Germanò, Alfredo Conti, Sergio Lucio Vinci

Thromb Res· December 2025

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Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss.
Raziye Rezvani Rezvandeh, Negar Kazemi, Farzane Zare Ashrafi, Ebrahim Shokouhian, Zahra Bolghanabadi

Mol Biol Rep· December 2025

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Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?
Giovanni Battista Luciani, Cristina Panico, Antonella Galeone, Vittoria Medeghini, Matteo Ciuffreda

Front Cardiovasc Med· December 2025

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Case Report of Hair Abnormalities in Dyskeratosis Congenita: A Trichoscopic and Microscopic Analysis.
Mariem Tabka, Asmahane Souissi, Feriel Amri, Malek Mrad, Mourad Mokni

Skin Appendage Disord· October 2025

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Consanguinity and adverse fetal outcomes- a population-based cohort study from a multiethnic population in the Middle East.
Jis Thomas, Fathima Minisha, Najat Khenyab, Salwa Abuyaqoub, Husam Salama

BMC Pregnancy Childbirth· December 2025

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Diagnostically challenging ligneous conjunctivitis with confirmed variants: clinical and genetic insights.
Ayse Bozkurt Oflaz, Ebru Marzioglu Ozdemir, Büsra Göksel Tulgar, Banu Bozkurt

Ophthalmic Genet· December 2025

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A splice-site variant in the () gene identified in a symptomatic carrier woman.
Aya Domoto, Kazuki Kuniyoshi, Akiko Suga, Kei Mizobuchi, Kazutoshi Yoshitake

Ophthalmic Genet· December 2025

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Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants.
Reza Hajati, Fatemeh Hashemian, Shadab Salehpour, Arezou Sayad

BMC Med Genomics· December 2025

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Genodermatosis among the southwestern Saudi population: The pattern and the need for a premarital genetic screening protocol.
Hamad A Alfahaad

Saudi Med J· December 2025

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Biallelic variants in DNAH11 cause male infertility with asthenozoospermia in a Chinese non-consanguineous family: A case report.
Yan Zhang, Junlin Pan, Jinwei Hou, Na Shi, Huiling Qu

Medicine (Baltimore)· December 2025

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Archaeogenetics reconstructs demography and extreme parental consanguinity in a Bronze Age community from Southern Italy.
Francesco Fontani, Felice Larocca, Elisabetta Cilli, Rocco Iacovera, Adam Jon Andrews

Commun Biol· December 2025

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Genomic and clinical predictors of cardiovascular disease in Familial dyslipidemia: risk stratification in Egyptian adolescents and young adults.
Ammal M Metwally, Nesma M Elaraby, Wafaa M Ezzat, Mark O Dimitry, Ghada A Elshaarawy

Lipids Health Dis· December 2025

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A Diagnosis Hidden in Plain Sight: A Rare Presentation of Isolated Dysarthria in Wilson's Disease-A Case Report.
Kruthika Reddy, Maanini Singhvi, Archana B Netto, B Thejus, Leroy D Souza

Clin Case Rep· December 2025

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Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.
Ahmed Shamakhi, Nabil Dhayhi, Shatha Matabi, Manal Maashi, Abdullah Dhaifallah Hamdi

Am J Case Rep· December 2025

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The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007-2023.
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas

Acta Ophthalmol· December 2025

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Cross-species studies implicate the melanocortin 3 receptor more strongly in the control of pubertal development than energy balance.
Katie Duckett, Alyce McClellan, Laura J Corbin, Irene Cimino, Ahmed Elhakeem

Mol Metab· December 2025

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Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in .
Mónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, Rocío Maseda-Pedrero, Tristán G Sobral-Costas

Front Med (Lausanne)· December 2025

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Genetic variability in maple syrup urine disease: novel mutations and their pathogenicity in the Iranian population.
Mansooreh Jafari, Fatemeh Karami, Iman Salahshourifar, Aria Setoodeh, Ali Rahmanifar

Mol Biol Rep· December 2025

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Profound hematologic instability in consanguinity-associated familial hemophagocytic lymphohistiocytosis: a pediatric case report.
Danyal Bakht, Rabia Yousaf, Faiza Yousaf, Syed Faqeer Hussain Bokhari, Muhammad Numan Awais

Ann Med Surg (Lond)· December 2025

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Case Report: A novel CIITA mutation causing MHC class II deficiency: first reported case in Morocco.
Aziza Bachir Kattra, Fatima Ailal, Ibtihal Benhsaien, Mohammed Fahi, Asmaa Drissi Bourhanbour

Front Immunol· December 2025

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Adult Onset of Type 2 Familial Hemophagocytic Lymphohistiocytosis After SARS-CoV-2 Vaccination with an Unusual Neurological Onset: The Great Mimic.
Flaminia Bellisario, Assunta Bianco, Francesco D'Alo', Chiara Passarelli, Rosellina Russo

Diagnostics (Basel)· November 2025

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Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report.
Himath Siriniwasa, Macken James Laurence Stirling, Siobhan Kean, Roger Pamphlett, Matthew Silsby

BMJ Neurol Open· December 2025

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Webb-Dattani syndrome in a 17-year-old girl.
Jamilah Saleh Alyami, Wael Mohammad Almistehi, Khalid Ibrahim Alkanhal

Endocrinol Diabetes Metab Case Rep· October 2025

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Clinical features and health-related quality of life in children with sickle cell disease in Khartoum, Sudan.
Gaffar Manhal, Abdullatif Yasir H Eissa, Ahmed Zaki W Mohamed Elhassan, Mohamed H Fadul, Ammar Elgadi

BMC Pediatr· December 2025

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Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity.
Zied Riahi, Sophie Boucher, Samia Abdi, Fabienne Wong Jun Tai, Amrit Singh-Estivalet

Proc Natl Acad Sci U S A· December 2025

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