Diagnosis and treatment of GH deficiency in Prader-Willi syndrome
Keywords: قد کوتاه; Prader-Willi syndrome; short stature; GH deficiency; GH therapy;
مقالات ISI قد کوتاه (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Molecular cytogenetic characterization of a familial pericentric inversion 3 associated with short stature
Keywords: قد کوتاه; BAC clones; Breakpoint regions; FISH; Inversion; Physical mapping; Short stature
Trichorhinophalangeal syndrome II, expanding the clinical spectrum
Keywords: قد کوتاه; Trichorhinophalangeal syndrome; Langer–Giedion syndrome; Exostosis; Short stature; Cone shaped epiphyses
Prevalence of Growth Disorders in a Nationally Representative Sample of Iranian Adolescents According to Socioeconomic Status: The CASPIAN-III Study
Keywords: قد کوتاه; adolescents; growth disorders; obesity; short stature; socioeconomic status; underweight
Síndrome de Turner: del nacimiento a la edad adulta
Keywords: قد کوتاه; Síndrome de Turner; Talla baja; Fallo gonadalTurner syndrome; Short stature; Gonadal failure
Attaining genetic height potential: Analysis of height outcomes from the ANSWER Program in children treated with growth hormone over 5 years
Keywords: قد کوتاه; Human growth hormone; Short stature; Isolated growth hormone deficiency; Multiple pituitary hormone deficiency; Idiopathic short stature; Born small for gestational age; Adult height
A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion
Keywords: قد کوتاه; ANKRD11; 16q24.3; KBG syndrome; Developmental delay; Intellectual disability; Short stature; Dysmorphism
MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus
Keywords: قد کوتاه; Monoamine oxidase (MAO); Serotonin; Short stature; Severe developmental delay; Hypotonia; Sudden loss of muscle tone
Perfil clínico de una cohorte de pacientes con síndrome de Silver-Russell atendidos en el Hospital Infantil de México Federico Gómez de 1998 a 2012
Keywords: قد کوتاه; Síndrome de Silver-Russell; Talla baja; Impronta genómicaSilver-Russell syndrome; Short stature; Genomic imprinting
Celiac disease in children with short stature: A hospital based study
Keywords: قد کوتاه; حساسية القمح; قصر القامة; أطفال; مضاد الندوميسيل; مضاد نسيج ترنس قلوتامينين; سعوديAnti-endomysial; Anti-tissue transglutaminase; Celiac disease; Children; Saudi; Short stature
Disorders of growth
Keywords: قد کوتاه; growth hormone; Prader–Willi syndrome; short stature; small for gestational age; tall stature; Turner's syndrome
Gender specific short stature in male adolescents with obsessive-compulsive disorder
Keywords: قد کوتاه; Obsessive-compulsive disorder; Adolescent; Gender; Growth; Height; Short stature; Serotonin reuptake inhibitor
Novel compound heterozygous mutations of the growth hormone-releasing hormone receptor gene in a case of isolated growth hormone deficiency
Keywords: قد کوتاه; Isolated growth hormone deficiency; Pituitary hypoplasia; Growth hormone-releasing hormone receptor; Short stature; Splice donor site
Voice Quality in Short Stature With and Without GH Deficiency
Keywords: قد کوتاه; Growth hormone deficiency; Short stature; Quality of life; Voice;
Short stature in African pygmies is not explained by sexual selection
Keywords: قد کوتاه; African pygmies; Short stature; Sexual selection
Growth hormone treatment in boys with Duchenne muscular dystrophy and glucocorticoid-induced growth failure
Keywords: قد کوتاه; Duchenne muscular dystrophy; Steroid; Corticosteroid; Glucocorticoid; Short stature; Growth failure; Growth hormone; Multidisciplinary; Interdisciplinary
The Insulin-Like Growth Factors and Growth Disorders of Childhood
Keywords: قد کوتاه; Growth hormone; Insulin-like growth factor; Short stature; GH receptor deficiency; Recombinant human insulin-like growth factor treatment;
21Â Mb deletion in chromosome band 13q22.2q32.1 associated with mild/moderate psychomotor retardation, growth hormone insufficiency, short neck, micrognathia, hypotonia, dysplastic ears and other dysmorphic features
Keywords: قد کوتاه; 13q interstitial deletion; Array-CGH; Rare genetic syndromes; Short stature; Growth hormone insufficiency; Psychomotor retardation; Hypertelorism; Broad nasal bridge; Short neck; Micrognathia; Thick helix; Hypotonia; Dysplastic ears;
Familial short stature due to a 5q22.1–q23.2 duplication refines the 5q duplication spectrum
Keywords: قد کوتاه; Partial trisomy 5q; Short stature; Congenital heart defect; Retardation
A de novo 1.1 Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation
Keywords: قد کوتاه; Microcephaly; Short stature; Developmental delay; Muscular hypotonia; Ataxia; Premature pubarche; Deletion 19p13.11; Split hand and foot malformation
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation
Keywords: قد کوتاه; Lean body; Mutation; Microcephaly; PQBP1; Short stature; X-linked mental retardation;
Short stature and metabolic abnormalities in two sisters with a 7.6-kb GH1 gene deletion
Keywords: قد کوتاه; Insulin-like growth factor-I; Growth hormone gene deletion; Short stature; Growth hormone deficiency
The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
Keywords: قد کوتاه; Heterozygote; Human growth hormone; Humans; Insulin-like growth factor I; IGF1; GH treatment; Growth; Microcephaly; Mutation; Pedigree; Short stature
The role of the SHOX gene in the pathophysiology of Turner syndrome
Keywords: قد کوتاه; Haploinsufficiency; Short stature; SHOX gene; Turner syndrome; Hearing lossHaploinsuficiencia; Baja estatura; Gen SHOX; Síndrome de Turner; Pérdida de audición
IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development
Keywords: قد کوتاه; IGF1 gene; IGF-I deficiency; small for gestational age; intrauterine growth restriction; fetal growth; microcephaly; IGF-I treatment; short stature; brain development; deafness
The role of the SHOX gene in the pathophysiology of Turner syndrome
Keywords: قد کوتاه; Haploinsufficiency; Short stature; SHOX gene; Turner syndrome; Hearing lossHaploinsuficiencia; Baja estatura; Gen SHOX; Síndrome de Turner; Pérdida de audición
Talla baja idiopática. Revisión y puesta al dÃa
Keywords: قد کوتاه; Talla baja idiopática; Talla baja; Retraso de crecimiento; Consenso; Idiopathic short stature; Short stature; Growth disorders; Consensus;
Strategies for Maximizing Growth in Puberty in Children with Short Stature
Keywords: قد کوتاه; Short stature; Aromatase; Aromatase inhibitors; Anastrozole; Letrozole; GnRH analogues
Genetic evaluation of short stature
Keywords: قد کوتاه; short stature; growth; growth hormone; GH1; GHRHR; IGF1; GHR; STAT5B; IGFALS; IGF1R; SHOX
Descriptive analyses of Turner syndrome: 49 cases in Tunisia
Keywords: قد کوتاه; Syndrome de Turner; Retard statural; Syndrome dysmorphique; Retard pubertaireTurner syndrome; Short stature; Dysmorphic syndrome; Delayed puberty
Incorporating genetic potential when evaluating stature in children with cystic fibrosis
Keywords: قد کوتاه; CF, Cystic fibrosis; CFF, Cystic Fibrosis Foundation; FEV1, Forced expiratory volume in one secondCystic fibrosis; Height; Parent–child relationship; Short stature; Lung function
Disorders of growth
Keywords: قد کوتاه; growth hormone; Prader–Willi syndrome; short stature; small for gestational age; tall stature; Turner syndrome
Assessment of the short child
Keywords: قد کوتاه; child; growth; short stature
The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height
Keywords: قد کوتاه; 12q14 Microdeletion syndrome; Osteopoikilosis; Buschke–Ollendorff; Short stature; Mental retardation; LEMD3; HMGA2
Strategies for Maximizing Growth in Puberty in Children with Short Stature
Keywords: قد کوتاه; Short stature; Aromatase; Aromatase inhibitors; Anastrozole; Letrozole; GnRH analogues
Recombinant Human Insulin-Like Growth Factor-1 Treatment: Ready for Primetime
Keywords: قد کوتاه; Insulin-like growth factor-1; Insulin-like growth factor-1 deficiency; Short stature; Growth; Growth hormone insensitivity;
Syndrome de Noonan et hormone de croissance
Keywords: قد کوتاه; Syndrome de Noonan; petite taille; déficit en GH; résistance à la GH; cardiopathie congenitale; Hormone de croissance; PTPN11Noonan’s syndrome; short stature; GH deficiency; GH insensitivity; congenital cardiomyopathy; Growth hormone; PTPN11 gene
A de novo 7.6 Mb tandem duplication of 14q32.2-qter associated with primordial short stature with neurosecretory growth hormone dysfunction, distinct facial anomalies and mild developmental delay
Keywords: قد کوتاه; Partial distal trisomy 14q; Short stature; Hypertelorism
Individualization of growth hormone therapy
Keywords: قد کوتاه; growth hormone; short stature; SGA; prediction model; pharmacogenomics
Idiopathic short stature: Definition, epidemiology, and diagnostic evaluation
Keywords: قد کوتاه; Growth; Short stature; Idiopathic short stature; Diagnosis; Growth hormone deficiency
A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6 kb deletion
Keywords: قد کوتاه; Short stature; Growth retardation; Isolated growth hormone deficiency
Mild variable Noonan syndrome in a family with a novel PTPN11 mutation
Keywords: قد کوتاه; Noonan syndrome; Short stature; PTPN11; SHP-2; Autosomal dominant
Longitudinal follow-up of height up to five years of age in infants born preterm small for gestational age; comparison to full-term small for gestational age infants
Keywords: قد کوتاه; Small for gestational age; Preterm infant; Short stature; Catch-up growth; Early childhood
Serum procollagen type 1 amino-terminal propeptide (P1NP) as an early predictor of the growth response to growth hormone treatment: Comparison of intrauterine growth retardation and idiopathic short stature
Keywords: قد کوتاه; Bone; Growth hormone treatment; Insulin-like growth factor I; Intrauterine growth retardation; Procollagen type 1 amino-terminal propeptide; Short stature
IGF-I, IGFBP-3 and ALS generation test in Turner syndrome
Keywords: قد کوتاه; Growth hormone; Short stature; Turner syndrome; Generation test; IGF-I; IGFBP-3; ALS
Le syndrome de Turner
Keywords: قد کوتاه; Short stature; Growth hormone therapy; Ovarian failure; Cardiovascular disease; Bone anomalies; Turner syndrome in adulthoodRetard statural; Traitement par hormone de croissance; Insuffisance ovarienne; Maladie cardiovasculaire; Anomalies osseuses; Syndro
Short stature and decreased insulin-like growth factor I (IGF-I)/growth hormone (GH)-ratio in an adult GH-deficient patient pointing to additional partial GH insensitivity due to a R179C mutation of the growth hormone receptor
Keywords: قد کوتاه; Growth hormone (GH); Growth hormone receptor (GHR); Growth hormone deficiency (GHD); Growth hormone insensitivity (GHI); Mutation; Short stature
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26
Keywords: قد کوتاه; X-linked mental retardation (XLMR); Hypogonadic hypogonadism; Short stature; Late onset testicular failure
Growth and growth hormone treatment in Turner syndrome
Keywords: قد کوتاه; Growth; Human growth hormone; Drug therapy; Short stature; Turner syndrome;
Use of aromatase inhibitors to increase final height
Keywords: قد کوتاه; Height growth; Bone age; Growth plate; Short stature; Stature; Aromatase inhibitor; Chondrocyte; Estrogen