Results 111 to 120 of about 1,639,589 (408)

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18)

Scientific Reports, 2020
Hereditary spastic paraplegia (HSP) is a heterogeneous inherited disorder that manifests with lower extremity weakness and spasticity. HSP can be inherited by autosomal dominant, autosomal recessive, and X-linked inheritance patterns. Recent studies have
Jin-Mo Park, Byeonghyeon Lee, Jong-Heun Kim, Seong-Yong Park, Jinhoon Yu, Un-Kyung Kim, Jin-Sung Park   +6 more
doaj   +1 more source

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese, Alongi, Altenmüller, Argyelan, Baird, Baizabal-Carvallo, Berardelli, Black, Bragg, Brakebusch, Breakefield, Brüggemann, Burkhard, Byrnes, Chang, Chang, Charlier, Clemmons, De Lahunta, De Ley, De Vlamynck, Defazio, Deuschl, Deuschl, Di Riso, Draper, Du, Elia, Erro, Evinger, Fahn, Forman, Fremont, Garosi, Garosi, Geiger, Geyer, Gilio, Gill, Gill, Gill, Gittis, Goodchild, Grünberg, Hallett, Hamann, Harcourt-Brown, Harvey, Herrtage, Ikoma, Jankovic, Jankovic, Jankovic, Jinnah, Jinnah, Jinnah, Kaji, Klein, Kuyper, Lohmann, Lowrie, Malone, Martlé, McCall, Meyer-Lindenberg, Meyers, Meyers, Meyers, Meyers, Müller, Nardocci, Nollet, Nollet, Obeso, Ostrander, Ozelius, Packer, Packer, Pariset, Park, Paudel, Penderis, Peters, Peterson, Prudente, Quartarone, Quartarone, Raike, Ramsey, Rascol, Richter, Richter, Richter, Richter, Richter, Ridding, Rothwell, Rothwell, Rusbridge, Sacchetto, Sanger, Shelton, Stoessl, Suls, Testoni, Thenganatt, Tolosa, Urkasemsin, Valberg, Vanhaesebrouck, Wichmann, Wilson, Wissel, Woods, Wright, Wright, Yanagisawa   +116 more
core   +2 more sources

Nutritional benefits of pancreas‐sparing total duodenectomy for severe duodenal polyposis in patients with familial adenomatous polyposis

Annals of Gastroenterological Surgery, EarlyView.
The postoperative nutritional status of patients with familial adenomatous polyposis who underwent pancreas‐sparing total duodenectomy was better than that of patients who underwent pancreaticoduodenectomy. This study provides the first direct comparison of postoperative nutritional outcomes between patients with pancreas‐sparing total duodenectomy and
Ibuki Fujinuma, Toshiro Ogura, Ayano Takahashi, Satoshi Nomura, Kei Kitamura, Amane Takahashi, Takehiro Shiraishi, Yoshiko Mori, Toru Ishiguro, Takatoshi Matsuyama, Youichi Kumagai, Hideyuki Ishida   +11 more
wiley   +1 more source

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.

European Heart Journal, 2015
AIMS Homozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9), is characterized by ...
B. Sjouke, D. Kusters, I. Kindt, J. Besseling, J. Defesche, E. Sijbrands, Jeanine E. Roeters van Lennep, A. Stalenhoef, A. Wiegman, J. de Graaf, S. Fouchier, J. Kastelein, G. Hovingh   +12 more
semanticscholar   +1 more source

Semi-Parametric Survival Estimation for pedigrees [PDF]

arXiv, 2016
Mendelian diseases are determined by a single mutation in a given gene. However, in the case of diseases with late onset, the age at onset is variable; it can even be the case that the onset is not observed in a lifetime. Estimating the survival function of the mutation carriers and the effect of modifying factors such as the sex, mutation, origin, etc,
arxiv  

Modern alleles in archaic human Y chromosomes support origin of modern human paternal lineages in Asia rather than Africa [PDF]

arXiv, 2020
Recent studies have shown that hybridization between modern and archaic humans was commonplace in the history of our species. After admixture, some individuals with admixed autosomes carried the modern Homo Sapiens uniparental DNAs, while the rest carried the archaic versions.
arxiv  

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]

, 2002
Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
core   +1 more source