Suchergebnisse - "Van"

Ellis-van Creveld syndrome: skeletal dysplasia with associated hypoplastic left heart syndrome.

Autoren: Gill P Chandni C Bordoloi M et al.

Quelle: BMJ case reports [BMJ Case Rep] 2025 Oct 10; Vol. 18 (10). Date of Electronic Publication: 2025 Oct 10.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X (Electronic) Linking ISSN: 1757790X NLM ISO Abbreviation: BMJ Case Rep Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/diagnosis , Ellis-Van Creveld Syndrome*/diagnostic imaging , Hypoplastic Left Heart Syndrome*/diagnosis , Hypoplastic Left Heart Syndrome*/genetics , Hypoplastic Left Heart Syndrome*/diagnostic imaging , Hypoplastic Left Heart Syndrome*/complications, Humans ; Female ; Pregnancy ; Genetic Counseling ; Ultrasonography, Prenatal ; Adult ; Echocardiography ; Prenatal Diagnosis ; Exome Sequencing ; Amniocentesis ; Abortion, Induced ; Genetic Testing ; Male

Secondary Asphyxiating Thoracic Dysplasia Due to Multiple Chondromas: A Novel Surgical Report.

Autoren: Wang W Vishnu R Long W et al.

Quelle: Interdisciplinary cardiovascular and thoracic surgery [Interdiscip Cardiovasc Thorac Surg] 2025 Sep 01; Vol. 40 (9).

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Oxford University Press Country of Publication: England NLM ID: 9918540787006676 Publication Model: Print Cited Medium: Internet ISSN: 2753-670X (Electronic) Linking ISSN: 2753670X NLM ISO Abbreviation: Interdiscip Cardiovasc Thorac Surg Subsets: MEDLINE

MeSH-Schlagworte: Ribs*/surgery , Ribs*/pathology , Ribs*/diagnostic imaging , Ellis-Van Creveld Syndrome*/surgery , Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/etiology , Ellis-Van Creveld Syndrome*/diagnosis , Bone Neoplasms*/complications , Bone Neoplasms*/surgery , Asphyxia*/etiology , Asphyxia*/surgery , Thoracic Wall*/surgery , Thoracic Wall*/abnormalities, Humans ; Male ; Adult ; Treatment Outcome ; Tomography, X-Ray Computed

SCR Disease Name: Jeune syndrome

Phenotypic heterogeneity in DYNC2H1 -related short-rib thoracic dysplasia: antenatal indicators and postnatal outcomes.

Autoren: Pattani N Elkhateeb N Joshi A et al.

Quelle: Journal of medical genetics [J Med Genet] 2025 Jun 24; Vol. 62 (7), pp. 476-483. Date of Electronic Publication: 2025 Jun 24.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

MeSH-Schlagworte: Cytoplasmic Dyneins*/genetics , Short Rib-Polydactyly Syndrome*/genetics , Short Rib-Polydactyly Syndrome*/diagnostic imaging , Short Rib-Polydactyly Syndrome*/pathology , Short Rib-Polydactyly Syndrome*/diagnosis , Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/diagnostic imaging, Humans ; Female ; Phenotype ; Male ; Pregnancy ; Ultrasonography, Prenatal ; Infant, Newborn ; Adult ; Infant ; Retrospective Studies ; Child, Preschool ; Mutation

SCR Disease Name: Jeune syndrome

Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)

Autoren: Aksoy B Tigrel G

Quelle: Turkish journal of ophthalmology [Turk J Ophthalmol] 2025 Feb 27; Vol. 55 (1), pp. 53-56. Date of Electronic Publication: 2025 Jan 30.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101686048 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2149-8709 (Electronic) Linking ISSN: 21498709 NLM ISO Abbreviation: Turk J Ophthalmol Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/diagnosis , Ellis-Van Creveld Syndrome*/complications , Retina*/pathology , Retinal Dystrophies*/diagnosis , Retinal Dystrophies*/etiology , Visual Acuity*, Humans ; Electroretinography ; Fluorescein Angiography/methods ; Fundus Oculi ; Tomography, Optical Coherence/methods

SCR Disease Name: Jeune syndrome

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Autoren: Xiong S Hu G Zhou Y et al.

Quelle: Hereditas [Hereditas] 2025 Jan 29; Vol. 162 (1), pp. 11. Date of Electronic Publication: 2025 Jan 29.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: BioMed Central Ltd Country of Publication: England NLM ID: 0374654 Publication Model: Electronic Cited Medium: Internet ISSN: 1601-5223 (Electronic) Linking ISSN: 00180661 NLM ISO Abbreviation: Hereditas Subsets: MEDLINE

MeSH-Schlagworte: Cytoplasmic Dyneins*/genetics , Ellis-Van Creveld Syndrome*/genetics , Mutation* , Short Rib-Polydactyly Syndrome*/genetics, Adult ; Female ; Humans ; Male ; China ; Heterozygote ; Pedigree ; East Asian People/genetics

Electric-field tunable magnetoexcitons in Xenes/hBN/TMDC, Xenes/hBN/BP, and Xenes/hBN/TMTC heterostructures.

Autoren: Kezerashvili, Roman Ya. Spiridonova, Anastasia Ziegler, Klaus

Quelle: Journal of Applied Physics. 11/7/2025, Vol. 138 Issue 17, p1-12. 12p.

Schlagwörter: *PHOSPHORENE, *VAN der Waals forces, *TRANSITION metals, *FLOQUET theory, *DIELECTRICS

High-performance van der Waals MTJs with graphene barrier and Fe3GaTe2 electrodes.

Autoren: Yuan, Hao Zhou, Jiamin Liu, Ruiren et al.

Quelle: Journal of Applied Physics. 10/14/2025, Vol. 138 Issue 14, p1-8. 8p.

Schlagwörter: *MAGNETIC tunnelling, *VAN der Waals forces, *SPINTRONICS, *GREEN'S functions, *GRAPHENE

Identification of two novel genetic variants for Ellis-van Creveld syndrome from a Chinese family through whole exome sequencing.

Autoren: Jiang X Yan X Peng F et al.

Quelle: European journal of obstetrics, gynecology, and reproductive biology [Eur J Obstet Gynecol Reprod Biol] 2024 Dec; Vol. 303, pp. 137-140. Date of Electronic Publication: 2024 Oct 22.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 0375672 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7654 (Electronic) Linking ISSN: 03012115 NLM ISO Abbreviation: Eur J Obstet Gynecol Reprod Biol Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/genetics , Exome Sequencing* , Ultrasonography, Prenatal*, Adult ; Female ; Humans ; Male ; Pregnancy ; China ; East Asian People/genetics ; Frameshift Mutation ; Membrane Proteins/genetics ; Pedigree

High-tech care in the Amish: Chronic respiratory failure in Ellis-van Creveld syndrome.

Autoren: Bowman MO Chowdhury D Poskitt LE et al.

Quelle: Pediatric pulmonology [Pediatr Pulmonol] 2024 Nov; Vol. 59 (11), pp. 3029-3031. Date of Electronic Publication: 2024 Jun 18.

Publikationsart: Case Reports; Letter

Info zur Zeitschrift: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8510590 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1099-0496 (Electronic) Linking ISSN: 10990496 NLM ISO Abbreviation: Pediatr Pulmonol Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/complications , Respiratory Insufficiency*/therapy , Respiratory Insufficiency*/etiology, Humans ; Chronic Disease ; Female ; Male ; Child

The effect of bond functions on intermolecular interactions for van der Waals dimers of neon, methane, and perfluoromethane.

Autoren: Rutskoy, Bogdan V. Ozerov, Georgiy K. Kleshchina, Nadezhda N. et al.

Quelle: Journal of Chemical Physics. 9/28/2025, Vol. 163 Issue 12, p1-13. 13p.

Schlagwörter: *INTERMOLECULAR interactions, *VAN der Waals forces, *NEON, *METHANE, *STATISTICAL correlation

Improved rotational characterization of the E3Σ1+(63S1) Rydberg state of CdAr van der Waals diatom: Excitation of single-isotopologue and J-level population distribution.

Autoren: Urbańczyk, Tomasz Koperski, Jarosław

Quelle: Journal of Chemical Physics. 9/14/2025, Vol. 163 Issue 10, p1-11. 11p.

Schlagwörter: *VAN der Waals forces, *ISOTOPOLOGUES, *LASER-induced fluorescence, *EXCITATION spectrum, *WAVENUMBER

Characterization of thermal boundary conductance of 2D–3D van der Waals interface using wideband transducerless frequency-domain thermoreflectance.

Autoren: Lu, Jialin Xie, Zhikun Chen, Runming et al.

Quelle: Journal of Applied Physics. 9/14/2025, Vol. 138 Issue 10, p1-12. 12p.

Schlagwörter: *TWO-dimensional materials (Nanotechnology), *VAN der Waals forces, *LIGHT absorption, *GALLIUM nitride, *FIELD-effect transistors, *PHOTODETECTORS

A novel GRK2 variant in a patient with Jeune asphyxiating thoracic dysplasia accompanied by Morgagni hernia.

Autoren: Şimşek-Kiper PÖ Karaosmanoğlu B Taşkıran EZ et al.

Quelle: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63629. Date of Electronic Publication: 2024 Apr 22.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , G-Protein-Coupled Receptor Kinase 2*/genetics , Hernias, Diaphragmatic, Congenital*/genetics , Hernias, Diaphragmatic, Congenital*/diagnostic imaging , Hernias, Diaphragmatic, Congenital*/pathology, Female ; Humans ; Exome Sequencing ; Mutation ; Phenotype ; Infant

SCR Disease Name: Jeune syndrome

Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion.

Autoren: León-Madero LF Fregoso-Ron CH De León-Carbajal JC et al.

Quelle: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2451.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

MeSH-Schlagworte: Cleft Palate*/genetics , Cleft Palate*/pathology , Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , Phenotype*, Humans ; Mexico ; Male ; Female ; Intercellular Signaling Peptides and Proteins

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Autoren: Altunoglu U Palencia-Campos A Güneş N et al.

Quelle: Journal of medical genetics [J Med Genet] 2024 Jun 20; Vol. 61 (7), pp. 633-644. Date of Electronic Publication: 2024 Jun 20.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/genetics , Ellis-Van Creveld Syndrome*/pathology , Phenotype* , Pedigree*, Humans ; Male ; Female ; Child ; Membrane Proteins/genetics ; Mutation ; Child, Preschool ; Zinc Finger Protein Gli3/genetics ; Adolescent ; Adult ; Nerve Tissue Proteins/genetics ; Cohort Studies ; Infant ; Proteins/genetics ; Retrospective Studies ; Intercellular Signaling Peptides and Proteins

Bacardí Tultitlán, México. Mies van der Rohe

Autoren: Lizárraga Sánchez, Salvador

Weitere Verfasser: University/Department: Universitat Politècnica de Catalunya. Departament de Teoria i Història de l'Arquitectura i Tècniques de Comunicació

Thesis Advisors: García Estévez, Carolina Beatriz, Rovira Gimeno, José María

Quelle: TDX (Tesis Doctorals en Xarxa)

Schlagwörter: Arquitectura, Tultitlán, Mies van der Rohe, Bacardí, Modernidad, México., Àrees temàtiques de la UPC::Arquitectura, 72 - Arquitectura

Dateibeschreibung: application/pdf

Zugangs-URL: http://hdl.handle.net/10803/694279
https://dx.doi.org/10.5821/dissertation-2117-428214

Ellis-van Creveld syndrome: a case report.

Autoren: Hameed M Jesrani AK Tariq SM et al.

Quelle: JPMA. The Journal of the Pakistan Medical Association [J Pak Med Assoc] 2024 Feb; Vol. 74 (2), pp. 391-393.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: Pakistan Medical Association Country of Publication: Pakistan NLM ID: 7501162 Publication Model: Print Cited Medium: Internet ISSN: 0030-9982 (Print) Linking ISSN: 00309982 NLM ISO Abbreviation: J Pak Med Assoc Subsets: MEDLINE

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/diagnosis , Polydactyly*/diagnosis , Heart Defects, Congenital*, Female ; Child ; Humans ; Fingers

Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report.

Autoren: Ferraresso LFOT Fagundes FAU Padovese M et al.

Quelle: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry [Spec Care Dentist] 2024 Jan-Feb; Vol. 44 (1), pp. 103-108. Date of Electronic Publication: 2023 Apr 11.

Publikationsart: Case Reports; Journal Article

Info zur Zeitschrift: Publisher: American Dental Association Country of Publication: United States NLM ID: 8103755 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-4505 (Electronic) Linking ISSN: 02751879 NLM ISO Abbreviation: Spec Care Dentist

MeSH-Schlagworte: Ellis-Van Creveld Syndrome*/complications , Ellis-Van Creveld Syndrome*/diagnosis , Dental Caries* , Tooth Abnormalities*/diagnostic imaging , Tooth Abnormalities*/etiology , Fibroma*/complications, Male ; Child ; Humans ; Dental Pulp Cavity

Solvent-induced transformations of assemblies of structured ionizable block co-polymers.

Autoren: Senanayake, Manjula Wijesinghe, Sidath Mohottalalage, Supun S. et al.

Quelle: Journal of Chemical Physics. 6/7/2025, Vol. 162 Issue 21, p1-9. 9p.

Schlagwörter: *BLOCK copolymers, *VAN der Waals forces, *SMALL-angle scattering, *COPOLYMERS, *PROPANOLS

Graphene-mediated interfacial interactions at polar liquid–air interface in a microfluidic platform.

Autoren: Jugade, Sanket Vashishth, Prabhat Sen, Prosenjit et al.

Quelle: Journal of Applied Physics. 6/7/2025, Vol. 137 Issue 21, p1-9. 9p.

Schlagwörter: *VAN der Waals forces, *HIGH resolution imaging, *ATOMIC force microscopy, *LIQUID surfaces, *MICROFLUIDIC devices, *MICROPOLAR elasticity