المؤلفون: Gripp, Karen W, Robbins, Katherine M, Sobreira, Nara L, Witmer, P Dane, Bird, Lynne M, Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S, Zackai, Elaine H, Doheny, Kimberly F, Stabley, Deborah L, Sol‐Church, Katia

المصدر: American Journal of Medical Genetics Part A. 167(2)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Pediatric, Congenital Structural Anomalies, Clinical Research, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Congenital, Abnormalities, Multiple, Child, Child, Preschool, DNA Mutational Analysis, Exome, Exons, Facies, High-Throughput Nucleotide Sequencing, Humans, Magnetic Resonance Imaging, Male, Meningocele, Mutation, Phenotype, Receptor, Notch3, Receptors, Notch, Young Adult, NOTCH3, lateral meningocele syndrome, Lehman syndrome, Hajdu-Cheney syndrome, PEST domain, dural ectasia, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3g9775f4

المؤلفون: Ernesto Canalis

المصدر: Frontiers in Genetics, Vol 11 (2021)

مصطلحات موضوعية: lateral meningocele syndrome, Lehman syndrome, genetic disorders, Notch, osteoporosis, osteoblast, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.620334/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/eb847ff0af1345689d2518a9d9370cb9

المؤلفون: Coleman P. Riordan, Helen N. Lyon, Joyce K. McIntyre

المصدر: The Journal of craniofacial surgery. 32(8)

مصطلحات موضوعية: medicine.medical_specialty, Trigonocephaly, CADASIL, Meningocele, Craniosynostosis, Lehman Syndrome, Leukoencephalopathy, Craniosynostoses, medicine, Humans, Abnormalities, Multiple, Stroke, Receptor, Notch3, Fibrous joint, business.industry, Infant, General Medicine, medicine.disease, Surgery, Plastic surgery, medicine.anatomical_structure, Otorhinolaryngology, Mutation, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42d56fe8ac0b5b5f4bdc20f7912cf295
https://pubmed.ncbi.nlm.nih.gov/34172679

المؤلفون: Ernesto Canalis

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2021)

مصطلحات موضوعية: Notch, lcsh:QH426-470, Cellular differentiation, Review, Biology, lateral meningocele syndrome, Bone remodeling, Osteoclast, medicine, Genetics, genetic disorders, Receptor, Genetics (clinical), Lehman syndrome, Genetic disorder, Osteoblast, medicine.disease, osteoporosis, lcsh:Genetics, Lateral meningocele syndrome, medicine.anatomical_structure, osteoclast, Cancer research, osteoblast, Molecular Medicine, Signal transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1c1031907e532cba1f192220b4d309
https://pubmed.ncbi.nlm.nih.gov/33519922

المؤلفون: McRae, H.M., Eccles, S., Whitehead, L., Alexander, W.S., Gécz, J., Thomas, T., Voss, A.K.

المصدر: http://dx.doi.org/10.1242/dev.187021.

مصطلحات موضوعية: BFLS, Börjeson-Forssman-Lehman Syndrome, Failure to thrive, Growth hormone, Growth hormone releasing hormone, IGF-1, Insulin-like growth factor 1, PHF6, Plant homeodomain finger protein 6, SOCS2, Suppressor of cytokine signaling 2

Relation: http://purl.org/au-research/grants/nhmrc/1029481; http://purl.org/au-research/grants/nhmrc/1161111; http://purl.org/au-research/grants/nhmrc/1113577; http://purl.org/au-research/grants/nhmrc/1091593; http://purl.org/au-research/grants/nhmrc/1176789; http://purl.org/au-research/grants/nhmrc/1058344; http://purl.org/au-research/grants/nhmrc/1155224; http://purl.org/au-research/grants/nhmrc/1081421; http://purl.org/au-research/grants/nhmrc/1003435; http://purl.org/au-research/grants/nhmrc/575512; Development (Cambridge), 2020; 147(21):1-12; http://hdl.handle.net/2440/131572; Gécz, J. [0000-0002-7884-6861]

الاتاحة: http://hdl.handle.net/2440/131572
https://doi.org/10.1242/dev.187021

المؤلفون: Mohan Amuthabarathi, Krishnan Nagarajan, Kramadhari Harshith

المصدر: Journal of Pediatric Neurosciences

مصطلحات موضوعية: musculoskeletal diseases, Dural ectasia, medicine.diagnostic_test, business.industry, General Neuroscience, Lehman syndrome, Macrocephaly, Case Report, Magnetic resonance imaging, Anatomy, musculoskeletal system, medicine.disease, Lehman Syndrome, Lateral meningocele syndrome, lateral meningocele, Ectasia, Pediatrics, Perinatology and Child Health, Failure to thrive, medicine, magnetic resonance imaging, Presentation (obstetrics), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69d20e705d9aa486116980da245ce802
https://doi.org/10.4103/jpn.jpn_152_18

المؤلفون: Resham, Ejaz, Wen, Qin, Lijia, Huang, Susan, Blaser, Martine, Tetreault, Taila, Hartley, Kym M, Boycott, Melissa T, Carter, Dennis, Bulman

المصدر: American journal of medical genetics. Part A. (4)

مصطلحات موضوعية: 0301 basic medicine, Joint hypermobility, Male, Pediatrics, medicine.medical_specialty, DNA Mutational Analysis, Neuroimaging, 030105 genetics & heredity, medicine.disease_cause, Meningocele, Feeding difficulty, Lehman Syndrome, 03 medical and health sciences, Exon, Genetics, medicine, Humans, Abnormalities, Multiple, Receptor, Notch3, Genetics (clinical), Mutation, business.industry, Brain, Facies, Exons, medicine.disease, Magnetic Resonance Imaging, Hypotonia, 030104 developmental biology, Lateral meningocele syndrome, Phenotype, Child, Preschool, Complex cardiac anomalies, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e619942d738fe41f3d0c6652a94ef04
https://pubmed.ncbi.nlm.nih.gov/26754023

المؤلفون: Zhang, Chi

Thesis Advisors: Bonni, Azad

مصطلحات موضوعية: Molecular biology, Neurosciences, Börjeson-Forssman-Lehman syndrome, Neuronal Migration, PAF1, PHF6, X-linked Intellectual Disability

الاتاحة: http://dissertations.umi.com/gsas.harvard:10763
http://nrs.harvard.edu/urn-3:HUL.InstRepos:11156785

المؤلفون: Ricardo Horta, Marisa Marques, Tiago Neto, José Amarante, Inês Correia-Sá

المصدر: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 52(3)

مصطلحات موضوعية: Male, medicine.medical_specialty, medicine.medical_treatment, Micrognathism, Osteogenesis, Distraction, Meningocele, Lehman Syndrome, Distraction, medicine, Humans, Abnormalities, Multiple, Hypertelorism, Robin Sequence, business.industry, Glossoptosis, Infant, medicine.disease, Magnetic Resonance Imaging, Surgery, Obstructive sleep apnea, stomatognathic diseases, Lateral meningocele syndrome, Otorhinolaryngology, Distraction osteogenesis, Oral Surgery, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07e919cef9fb9f053cb19ec18ab1be5d
https://pubmed.ncbi.nlm.nih.gov/23962060