Search Results

• • 155 

    Academic Journals

  • Sort by: sorttype.publication.date.desc Newest sorttype.publication.date.asc Oldest sorttype.relevance Relevance

• Select Fraser syndrome

  1

  Fraser syndrome

  Authors:M. Kalpana Kumari, Sulata Kamath, Vijaya Mysorekar, and G. NandiniFrom:Indian Journal of Pathology and Microbiology (Vol. 51, Issue 2) Peer-Reviewed

  April-June 20081,017 words Case study Byline: M. Kalpana Kumari, Sulata. Kamath, Vijaya. Mysorekar, G. Nandini Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly...
• Select New Orofaciodigital Syndromes Study Findings Reported from Medical University of South Carolina (Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1)

  2

  New Orofaciodigital Syndromes Study Findings Reported from Medical University of South Carolina (Successful treatment of facial milia in an infant with orofaciodigital syndrome type 1)

  From:Obesity, Fitness & Wellness Week

  Feb. 17, 2018387 words Brief article 1490L2018 FEB 17 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Researchers detail new data in Musculoskeletal Diseases and Conditions - Orofaciodigital Syndromes. According to news...
• Select New Findings from National University Health System in the Area of Apert Syndrome Reported [Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies]

  3

  New Findings from National University Health System in the Area of Apert Syndrome Reported [Apert syndrome: magnetic resonance imaging (MRI) of associated intracranial anomalies]

  From:Obesity, Fitness & Wellness Week

  Feb. 24, 2018418 words Report 1390L2018 FEB 24 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Fresh data on Musculoskeletal Diseases and Conditions - Apert Syndrome are presented in a new report. According to news...
• Select A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia

  4

  A New Case of Neu-Laxova Syndrome: Infant with Facial Dysmorphism, Arthrogryposis, Ichthyosis, and Microcephalia

  Authors:Behzad Barekatain, Alireza Sadeghnia, Elham Rouhani, and Ghazaleh SoofiFrom:Advanced Biomedical Research (Vol. 7, Issue 1) Peer-Reviewed

  January-December 20181,453 words Report 1610LByline: Behzad. Barekatain, Alireza. Sadeghnia, Elham. Rouhani, Ghazaleh. Soofi Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by central nervous system anomalies, facial dysmorphic...
• Select Vanderbilt University Researchers Publish New Studies and Findings in the Area of Apert Syndrome (Sinus disease in Apert's syndrome: Durable quality of life improvement following surgical intervention).

  5

  Vanderbilt University Researchers Publish New Studies and Findings in the Area of Apert Syndrome (Sinus disease in Apert's syndrome: Durable quality of life improvement following surgical intervention).

  From:Obesity, Fitness & Wellness Week

  Mar. 13, 2021349 words Brief article 1260L2021 MAR 13 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Researchers detail new data in Apert syndrome. According to news reporting originating from Vanderbilt University by...
• Select Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.

  6

  Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report.

  Authors:Chun Pan, Xiaowei Zhou, Anlan Hong, Fang Fang, and Yan WangFrom:BMC Medical Genomics (Vol. 13, Issue 1) Peer-Reviewed

  Dec. 12, 20202,493 words Clinical report 1440LBackground Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders...
• Select Near-complete tracheal ring deformity: a case report

  7

  Near-complete tracheal ring deformity: a case report

  Authors:Melissa L. Somers and Dana L. SuskindFrom:Ear, Nose and Throat Journal (Vol. 87, Issue 7) Peer-Reviewed

  July 20081,402 words Case study 1640LAbstract Long-segment near-complete tracheal ring deformity is a rare condition with few documented cases. We present the case of a 7-week-old male with total anomalous pulmonary venous return and long-segment...
• Select Findings from University of Adelaide Provides New Data on Acrocephalosyndactylia (Tyrosine kinase receptor c-ros-oncogene 1 inhibition alleviates aberrant bone formation of TWIST-1 haploinsufficient calvarial cells from Saethre-Chotzen syndrome ...)

  8

  Findings from University of Adelaide Provides New Data on Acrocephalosyndactylia (Tyrosine kinase receptor c-ros-oncogene 1 inhibition alleviates aberrant bone formation of TWIST-1 haploinsufficient calvarial cells from Saethre-Chotzen syndrome ...)

  From:Obesity, Fitness & Wellness Week

  May 5, 2018556 words Report 1480L2018 MAY 5 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- New research on Musculoskeletal Diseases and Conditions - Acrocephalosyndactylia is the subject of a report. According...
• Select Findings from Children's Hospital Update Understanding of Medical Genetics (Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred with Oral-Facial-Digital Syndrome Type VI)

  9

  Findings from Children's Hospital Update Understanding of Medical Genetics (Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred with Oral-Facial-Digital Syndrome Type VI)

  From:Obesity, Fitness & Wellness Week

  Sept. 19, 2015365 words Brief article 1600L2015 SEP 19 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Investigators discuss new findings in Genetics. According to news reporting originating in Houston, Texas, by NewsRx...
• Select Apert's syndrome - A case report

  10

  Apert's syndrome - A case report

  Authors:V. Upadhyaya, D. Upadhyaya, and S. SarkarFrom:Indian Journal of Radiology and Imaging (Vol. 15, Issue 4) Peer-Reviewed

  October-December 20051,203 words Clinical report 1540LByline: V. Upadhyaya, D. Upadhyaya, S. Sarkar INTRODUCTION Craniosynostosis is the term that designates premature fusion of one or more sutures. Reduced or asymmetrical skull growth ensues, causing deformity of...
• Select The journey to accepting support: how parents of profoundly disabled children experience support in their lives

  11

  The journey to accepting support: how parents of profoundly disabled children experience support in their lives

  Author:Jane BrettFrom:Paediatric Nursing (Vol. 16, Issue 8) Peer-Reviewed

  Oct. 20043,163 words Article ABSTRACT Advances in medical knowledge and care have extended the lives of children with profound and multiple disabilities. In most cases it is the parents who meet the often complex and continual needs of their...
• Select Mutations in SBDS are associated with Shwachman-Diamond syndrome

  12

  Mutations in SBDS are associated with Shwachman-Diamond syndrome

  Authors:Graeme R.B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, et al.From:Nature Genetics (Vol. 33, Issue 1) Peer-Reviewed

  Jan. 20034,176 words Clinical report 1570LAuthor(s): Graeme R.B. Boocock [1, 2]; Jodi A. Morrison [1]; Maja Popovic [1, 2]; Nicole Richards [1]; Lynda Ellis [3, 4]; Peter R. Durie [3, 4]; Johanna M. Rommens (corresponding author) [1, 2] Shwachman-Diamond...
• Select An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

  13

  An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy

  Authors:Sheena Sharma, Jennifer M. Kalish, Ethan M. Goldberg, Francis Jeshira Reynoso, and Madhura PradhanFrom:Case Reports in NephrologyPeer-Reviewed

  Annual 20163,238 words Clinical report 1310LBackground. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes...
• Select New Apert Syndrome Study Findings Have Been Reported by Researchers at University Hospital (Excessive ossification of the bandeau in Crouzon and Apert syndromes).

  14

  New Apert Syndrome Study Findings Have Been Reported by Researchers at University Hospital (Excessive ossification of the bandeau in Crouzon and Apert syndromes).

  From:Obesity, Fitness & Wellness Week

  May 23, 2020485 words Report 1520L2020 MAY 23 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- New research on Musculoskeletal Diseases and Conditions - Apert Syndrome is the subject of a report. According to news...
• Select OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models

  15

  OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models

  Authors:Juan Wang, Xin Chen, Fang Wang, Jieping Zhang, Peng Li, Zongyi Li, et al.From:PLoS ONE (Vol. 11, Issue 5) Peer-Reviewed

  May 19, 20168,191 words Report 1390LOfd1 is a newly identified causative gene for Retinitis pigmentosa (RP), a photoreceptor degenerative disease. This study aimed to examine Ofd1 localization in retina and further to investigate its function in...
• Select Genetic analysis of fin development in zebrafish identifies Furin and Hemicentin1 as potential novel Fraser Syndrome disease genes

  16

  Genetic analysis of fin development in zebrafish identifies Furin and Hemicentin1 as potential novel Fraser Syndrome disease genes

  Authors:Thomas J. Carney, Natalia Martins Feitosa, Carmen Sonntag, Krasimir Slanchev, Johannes Kluger, Daiji Kiyozumi, et al.From:PLoS Genetics (Vol. 6, Issue 4) Peer-Reviewed

  Apr. 201013,616 words Report Using forward genetics, we have identified the genes mutated in two classes of zebrafish fin mutants. The mutants of the first class are characterized by defects in embryonic fin morphogenesis, which are due to...
• Select Department of Obstetrics and Gynecology Researchers Publish New Study Findings on Fraser Syndrome (A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1).

  17

  Department of Obstetrics and Gynecology Researchers Publish New Study Findings on Fraser Syndrome (A multidisciplinary approach for prenatal diagnosis of FRASER SYNDROME-report of a novel variant in FRAS1).

  From:Obesity, Fitness & Wellness Week

  Mar. 12, 2022392 words Report, Brief articl... 1460L2022 MAR 12 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Research findings on Fraser syndrome are discussed in a new report. According to news reporting originating from...
• Select Researchers from University of East Anglia Detail New Studies and Findings in the Area of Apert Syndrome

  18

  Researchers from University of East Anglia Detail New Studies and Findings in the Area of Apert Syndrome

  From:Obesity, Fitness & Wellness Week

  July 30, 2011310 words Brief article 1420LAccording to the authors of recent research from Norwich, United Kingdom, "AS (Apert syndrome) is a congenital disease composed of skeletal, visceral and neural abnormalities, caused by dominant-acting mutations in...
• Select Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

  19

  Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein

  Authors:Lesley McGregor, Ville Makela, Susan M Darling, Sofia Vrontou, Georges Chalepakis, Catherine Roberts, et al.From:Nature Genetics (Vol. 34, Issue 2) Peer-Reviewed

  June 20034,841 words Article 1430LAuthor(s): Lesley McGregor [1]; Ville Makela [2]; Susan M Darling [1, 3]; Sofia Vrontou [4]; Georges Chalepakis [4]; Catherine Roberts [1]; Nicola Smart [1]; Paul Rutland [2]; Natalie Prescott [2]; Jason Hopkins [3];...
• Select Findings from Nagoya University in Ceramides Reported (Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency)

  20

  Findings from Nagoya University in Ceramides Reported (Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency)

  From:Obesity, Fitness & Wellness Week

  Dec. 22, 2018521 words Report 1450L2018 DEC 22 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- A new study on Amides - Ceramides is now available. According to news originating from Nagoya, Japan, by NewsRx...