Compounds > arginine

arginine and Acrocephaly

arginine has been researched along with Acrocephaly in 21 studies

Research

Studies (21)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's4 (19.05)18.2507
2000's11 (52.38)29.6817
2010's5 (23.81)24.3611
2020's1 (4.76)2.80

Authors

AuthorsStudies
Ahmad, I; Altmüller, J; Baig, SM; Behme, D; Erdmann, J; Garbers, C; Hartig, R; Jameel, M; Kespohl, B; Lokau, J; Malik, NA; Mucha, S; Nürnberg, P; Schwab, R; Tariq, M; Thiele, H1
Aravidis, C; Konialis, CP; Kosmaidou, Z; Pangalos, CG1
Ang, BU; Kirschner, RE; Nah, HD; Spivak, RM1
de Jong, T; Hoogeboom, AJ; Mathijssen, IM1
Mulliken, JB; Padwa, BL; Ridgway, EB; Rogers, GF; Sullivan, SR; Vasudavan, S; Wu, JK1
Bartlett, SP; Chin, B; Hankenson, KD; Koyama, E; Lakin, GE; Laurita, J; Nah, HD; Taylor, JA1
Bill, J; Eulert, S; Phan The, L; Reinhart, E; Reuther, J; Würzler, K1
Caldarelli, M; Di Rocco, C; Di Rocco, F; Sabatino, G; Tamburrini, G; Zampino, G1
Ariga, T; Fujioka, H; Horiuchi, K; Igawa, H; Kawashima, K; Sakiyama, Y; Sugihara, T; Yamamoto, Y1
Richards, PG; Thomas, GP; Wall, SA; Wilkie, AO1
Anderson, PJ; Cox, TC; David, DJ; Netherway, DJ; Roscioli, T1
Christensen, L; Darvann, TA; Hermann, NV; Hove, HD; Keller, MK; Kreiborg, S; Larsen, P; Marsh, JL; Schwartz, M1
Boles, RG; Dhamcharee, V1
Baraister, M; Dean, JC; Evans, RD; Hall, CM; Hayward, R; Jones, BM; Malcolm, S; Nevin, NC; Pulleyn, LJ; Reardon, W; Rutland, P; Wilkes, D; Winter, RM1
Braddock, SR; Graham, JM; Jabs, EW; Lachman, R; Mortier, GR; Van Dop, C1
Alitalo, K; Gaudenz, K; Muenke, M; Roessler, E; Vainikka, S1
Cohen, AR; Goldstein, JA; Robin, NH; Scott, JA1
Bonaventure, J; El-Ghouzzi, V; Lajeunie, E; Le Merrer, M; Renier, D1
Blandin de Chalain, TM; Moko, SB1
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y1
Fleming, J; Gerritsen, J; Graham, GE; Jabs, EW; Lowry, RB1

Reviews

1 review(s) available for arginine and Acrocephaly

ArticleYear
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2014, Volume: 27, Issue:14

    Topics: Adult; Amino Acid Substitution; Arginine; Craniosynostoses; Family; Female; Greece; Humans; Infant, Newborn; Mutation, Missense; Pedigree; Phenotype; Pregnancy; Prenatal Diagnosis; Proline; Receptor, Fibroblast Growth Factor, Type 3

2014

Other Studies

20 other study(ies) available for arginine and Acrocephaly

ArticleYear
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
    Scientific reports, 2023, 08-18, Volume: 13, Issue:1

    Topics: Arginine; Brain; Craniosynostoses; Head; Humans; Skull

2023
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
    The Journal of craniofacial surgery, 2010, Volume: 21, Issue:2

    Topics: Acrocephalosyndactylia; Adenoviridae; Alkaline Phosphatase; Animals; Arginine; Biomarkers; Cell Differentiation; Cell Proliferation; Cells, Cultured; Coculture Techniques; Coloring Agents; Core Binding Factor Alpha 1 Subunit; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Dura Mater; Genetic Vectors; Mice; Osteoblasts; Osteogenesis; Osteopontin; Phenylalanine; Point Mutation; Receptor, Fibroblast Growth Factor, Type 2; Syndrome; Tetrazolium Salts; Thiazoles

2010
Additional phenotypic features of Muenke syndrome in 2 Dutch families.
    The Journal of craniofacial surgery, 2011, Volume: 22, Issue:2

    Topics: Acrocephalosyndactylia; Arginine; Craniosynostoses; Female; Humans; Male; Netherlands; Pedigree; Phenotype; Proline; Receptor, Fibroblast Growth Factor, Type 3

2011
Craniofacial growth in patients with FGFR3Pro250Arg mutation after fronto-orbital advancement in infancy.
    The Journal of craniofacial surgery, 2011, Volume: 22, Issue:2

    Topics: Abnormalities, Multiple; Arginine; Cephalometry; Craniosynostoses; Endoscopy; Female; Forehead; Frontal Bone; Humans; Infant; Male; Orbit; Proline; Receptor, Fibroblast Growth Factor, Type 3; Reoperation; Retrospective Studies

2011
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses.
    Developmental dynamics : an official publication of the American Association of Anatomists, 2011, Volume: 240, Issue:11

    Topics: Amino Acid Substitution; Animals; Arginine; Cranial Sutures; Craniosynostoses; Growth Plate; Mice; Mice, Transgenic; Models, Biological; Mutation, Missense; Ossification, Heterotopic; Osteogenesis; Phenotype; Proline; Receptor, Fibroblast Growth Factor, Type 3; Skull Base; X-Ray Microtomography

2011
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
    Mund-, Kiefer- und Gesichtschirurgie : MKG, 2003, Volume: 7, Issue:3

    Topics: Amino Acid Substitution; Arginine; Cephalometry; Child; Child, Preschool; Craniosynostoses; Female; Follow-Up Studies; Frontal Bone; Humans; Infant; Male; Orbit; Point Mutation; Postoperative Complications; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

2003
Muenke syndrome.
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2004, Volume: 20, Issue:5

    Topics: Arginine; Bone and Bones; Craniosynostoses; Facies; Female; Genes, Dominant; History, 20th Century; Humans; Infant, Newborn; Mutation; Penetrance; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome; Tomography, X-Ray Computed

2004
Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.
    American journal of medical genetics. Part A, 2004, Jul-15, Volume: 128A, Issue:2

    Topics: Arginine; Child, Preschool; Codon, Nonsense; Codon, Terminator; Craniosynostoses; DNA Mutational Analysis; Exons; Facies; Female; Gastroesophageal Reflux; Gene Deletion; Humans; Mandibulofacial Dysostosis; Mutation; Nuclear Proteins; Phosphoproteins; Polymorphism, Single-Stranded Conformational; Tomography, X-Ray Computed

2004
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
    The Journal of craniofacial surgery, 2005, Volume: 16, Issue:3

    Topics: Adolescent; Amino Acid Substitution; Arginine; Child; Child, Preschool; Craniosynostoses; Craniotomy; Female; Heterozygote; Humans; Intracranial Hypertension; Male; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Reoperation; Retrospective Studies; Syndrome

2005
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
    The Journal of craniofacial surgery, 2006, Volume: 17, Issue:1

    Topics: Acrocephalosyndactylia; Adenine; Adolescent; Arginine; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Cysteine; Cytosine; DNA Transposable Elements; Female; Follow-Up Studies; Guanine; Humans; Male; Mutation; Receptor, Fibroblast Growth Factor, Type 2; Sequence Deletion; Serine; Syndrome; Thymine; Treatment Outcome; Tryptophan; Twist-Related Protein 1

2006
Craniofacial morphology in Muenke syndrome.
    The Journal of craniofacial surgery, 2007, Volume: 18, Issue:2

    Topics: Amino Acid Substitution; Arginine; Chi-Square Distribution; Cranial Sutures; Craniosynostoses; Facial Asymmetry; Female; Humans; Imaging, Three-Dimensional; Infant; Male; Mutation, Missense; Proline; Receptor, Fibroblast Growth Factor, Type 3; Severity of Illness Index; Sex Ratio; Statistics, Nonparametric; Syndrome; Tomography, X-Ray Computed

2007
FGFR mutations and plagiocephaly.
    The Journal of craniofacial surgery, 2008, Volume: 19, Issue:1

    Topics: Acrocephalosyndactylia; Arginine; Craniofacial Dysostosis; Craniosynostoses; Electrophoresis; Exons; Genetic Predisposition to Disease; Genetic Variation; Humans; Infant; Mutation; Plagiocephaly, Nonsynostotic; Proline; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

2008
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
    Journal of medical genetics, 1997, Volume: 34, Issue:8

    Topics: Acrocephalosyndactylia; Adult; Arginine; Child; Child, Preschool; Craniosynostoses; Female; Fibroblast Growth Factors; Humans; Intellectual Disability; Male; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor

1997
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
    American journal of medical genetics, 1998, May-26, Volume: 77, Issue:4

    Topics: Abnormalities, Multiple; Adolescent; Arginine; Craniosynostoses; DNA Mutational Analysis; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Infant; Male; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Radiography; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome

1998
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
    Molecular genetics and metabolism, 1998, Volume: 64, Issue:1

    Topics: Acrocephalosyndactylia; Arginine; Base Sequence; Child; Craniosynostoses; Deoxyribonucleases, Type II Site-Specific; Genetic Testing; Humans; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Proline; Protein-Tyrosine Kinases; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 1; Receptor, Fibroblast Growth Factor, Type 2; Receptor, Fibroblast Growth Factor, Type 3; Receptor, Fibroblast Growth Factor, Type 4; Receptors, Fibroblast Growth Factor; Sequence Homology, Amino Acid

1998
Nonpenetrance in FGFR3-associated coronal synostosis syndrome.
    American journal of medical genetics, 1998, Nov-16, Volume: 80, Issue:3

    Topics: Adult; Arginine; Craniosynostoses; Female; Humans; Infant; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Syndrome

1998
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.
    Journal of neurosurgery, 2000, Volume: 92, Issue:4

    Topics: Arginine; Chi-Square Distribution; Child; Child, Preschool; Craniosynostoses; DNA; Female; Fibroblast Growth Factors; Fingers; Follow-Up Studies; Frontal Bone; Humans; Hypertelorism; Intelligence; Male; Parietal Bone; Phenotype; Point Mutation; Prevalence; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sex Factors; Skull; Temporal Bone; Treatment Outcome

2000
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
    Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery, 2001, Volume: 29, Issue:1

    Topics: Arginine; Codon; Craniosynostoses; Cytosine; Exons; Female; Fibroblast Growth Factors; Frontal Bone; Gene Expression; Genes, Dominant; Guanine; Heterozygote; Humans; Male; Mutation; Native Hawaiian or Other Pacific Islander; New Zealand; Parietal Bone; Pedigree; Phenotype; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; White People

2001
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
    The Journal of craniofacial surgery, 2001, Volume: 12, Issue:6

    Topics: Acrocephalosyndactylia; Arginine; Cleft Palate; Codon; Craniofacial Dysostosis; Craniosynostoses; Exons; Female; Heterozygote; Humans; Japan; Male; Mutation; Polymerase Chain Reaction; Proline; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Sequence Analysis, DNA; Serine; Syndactyly; Tryptophan

2001
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
    American journal of medical genetics, 2001, Nov-22, Volume: 104, Issue:2

    Topics: Adult; Arginine; Child, Preschool; Craniosynostoses; Facies; Family Health; Female; Humans; Klippel-Feil Syndrome; Male; Mutation; Pedigree; Point Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor; Shoulder; Syndrome

2001