proline has been researched along with Acrocephaly in 21 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 7 (33.33) | 18.2507 |
2000's | 10 (47.62) | 29.6817 |
2010's | 4 (19.05) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Aravidis, C; Konialis, CP; Kosmaidou, Z; Pangalos, CG | 1 |
de Jong, T; Hoogeboom, AJ; Mathijssen, IM | 1 |
Mulliken, JB; Padwa, BL; Ridgway, EB; Rogers, GF; Sullivan, SR; Vasudavan, S; Wu, JK | 1 |
Bartlett, SP; Chin, B; Hankenson, KD; Koyama, E; Lakin, GE; Laurita, J; Nah, HD; Taylor, JA | 1 |
Friedrich, M; Lorenz, B; Preising, MN; Schindler, S; Wagener, H | 1 |
Bill, J; Eulert, S; Phan The, L; Reinhart, E; Reuther, J; Würzler, K | 1 |
Caldarelli, M; Di Rocco, C; Di Rocco, F; Sabatino, G; Tamburrini, G; Zampino, G | 1 |
Richards, PG; Thomas, GP; Wall, SA; Wilkie, AO | 1 |
Christensen, L; Darvann, TA; Hermann, NV; Hove, HD; Keller, MK; Kreiborg, S; Larsen, P; Marsh, JL; Schwartz, M | 1 |
Boles, RG; Dhamcharee, V | 1 |
Ignelzi, MA; Kundu, R; Liu, YH; Luo, W; Maxson, RE; Snead, ML; Wu, L | 1 |
Golden, S; Ma, L; Maxson, R; Wu, L | 1 |
Gagnon, DM; Heath, JK; Hoganson, G; Howard, TD; Jabs, EW; Lunt, PW; McDonald-McGinn, DM; Moloney, DM; Muenke, M; Oldridge, M; Twigg, SR; Wilkie, AO; Zackai, EH | 1 |
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, RM | 1 |
Braddock, SR; Graham, JM; Jabs, EW; Lachman, R; Mortier, GR; Van Dop, C | 1 |
Alitalo, K; Gaudenz, K; Muenke, M; Roessler, E; Vainikka, S | 1 |
Cohen, AR; Goldstein, JA; Robin, NH; Scott, JA | 1 |
Bonaventure, J; El-Ghouzzi, V; Lajeunie, E; Le Merrer, M; Renier, D | 1 |
Blandin de Chalain, TM; Moko, SB | 1 |
Nakakita, N; Sakai, N; Sakata, Y; Shida, H; Susami, T; Takato, T; Tokunaga, K; Uchinuma, E; Yamazaki, Y | 1 |
Fleming, J; Gerritsen, J; Graham, GE; Jabs, EW; Lowry, RB | 1 |
1 review(s) available for proline and Acrocephaly
Article | Year |
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A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
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 |
20 other study(ies) available for proline and Acrocephaly
Article | Year |
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Additional phenotypic features of Muenke syndrome in 2 Dutch families.
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.
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.
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 |
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
Topics: Amino Acid Substitution; Child, Preschool; Cranial Sutures; Craniosynostoses; Exons; Female; Fibroblast Growth Factors; Genetic Carrier Screening; Humans; Leucine; Mutation; Proline; Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 3; Receptors, Fibroblast Growth Factor | 2002 |
[Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)].
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.
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 |
FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.
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 |
Craniofacial morphology in Muenke syndrome.
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.
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 |
Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.
Topics: Animals; Craniosynostoses; DNA-Binding Proteins; Female; Genes, Homeobox; Histidine; Homeodomain Proteins; Humans; In Situ Hybridization; Infant, Newborn; Male; Mice; Mice, Inbred Strains; Mice, Transgenic; Point Mutation; Proline; Skull | 1995 |
The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences.
Topics: Animals; Craniosynostoses; DNA-Binding Proteins; Histidine; Homeodomain Proteins; Humans; Mice; Point Mutation; Proline; Protein Binding | 1996 |
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Topics: Adult; Child; Craniosynostoses; Dipeptides; Female; Foot Deformities, Congenital; Genotype; Hand Deformities, Congenital; Humans; Immunoglobulins; Male; Nucleotides; Pedigree; Phenotype; Proline; Radiography; Receptor Protein-Tyrosine Kinases; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor; Serine | 1997 |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
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.
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.
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.
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.
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.
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.
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.
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 |