| review article | Q7318358 |
| scholarly article | Q13442814 |
| P356 | DOI | 10.1016/J.YAPD.2008.07.019 |
| P698 | PubMed publication ID | 19048732 |
| P2093 | author name string | Jesús Argente | |
| Juan F Sotos | |||
| P2860 | cites work | Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome | Q24320198 |
| A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis | Q24536310 | ||
| Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome | Q24540161 | ||
| Protean PTEN: form and function | Q24613810 | ||
| NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes | Q24615626 | ||
| A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome | Q24672101 | ||
| Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome | Q28139404 | ||
| PTEN: one gene, many syndromes | Q28203387 | ||
| Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature | Q28210443 | ||
| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth | Q28236665 | ||
| Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome | Q28237330 | ||
| A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly | Q28240587 | ||
| Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes | Q28241612 | ||
| Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man | Q28248505 | ||
| Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor | Q28248720 | ||
| Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 | Q28302878 | ||
| Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients | Q28306945 | ||
| The fat-derived hormone adiponectin reverses insulin resistance associated with both lipoatrophy and obesity | Q28506782 | ||
| Molecular and evolutionary analysis of the growth-controlling region on the human Y chromosome | Q31017898 | ||
| Sotos syndrome: a study of the diagnostic criteria and natural history | Q33672767 | ||
| Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome | Q33679366 | ||
| Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations | Q34015481 | ||
| Haploinsufficiency of NSD1 causes Sotos syndrome | Q34118696 | ||
| A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome | Q34219428 | ||
| Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens | Q34368450 | ||
| Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature | Q34491611 | ||
| The identification of homocystine in the urine | Q34540307 | ||
| Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland | Q34540514 | ||
| CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER. | Q34540876 | ||
| Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers | Q34579796 | ||
| Recognizing rare disorders: aromatase deficiency. | Q34621892 | ||
| Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature | Q34982435 | ||
| Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes | Q35197831 | ||
| Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly | Q35224279 | ||
| Spectrum of NSD1 mutations in Sotos and Weaver syndromes | Q35442715 | ||
| The fragile X syndrome: from molecular genetics to neurobiology | Q35679947 | ||
| Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. | Q35768783 | ||
| Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues | Q35769615 | ||
| Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study | Q35946338 | ||
| Beckwith-Wiedemann syndrome: multiple molecular mechanisms | Q36536818 | ||
| Tall stature and duplication of the insulin-like growth factor I receptor gene | Q36631157 | ||
| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders | Q36633070 | ||
| Medical progress: Acromegaly | Q36682524 | ||
| Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates | Q36688366 | ||
| Loss of the imprinted IGF2/cation-independent mannose 6-phosphate receptor results in fetal overgrowth and perinatal lethality | Q36731073 | ||
| Mechanisms regulating imprinted genes in clusters. | Q36805477 | ||
| Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome. | Q36889142 | ||
| Sex steroid treatment of constitutionally tall stature | Q40837779 | ||
| Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. | Q41066237 | ||
| A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion | Q43075294 | ||
| Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). | Q44637714 | ||
| Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene | Q44690326 | ||
| Leptin-replacement therapy for lipodystrophy. | Q45714149 | ||
| Differential impact of simple childhood obesity on the components of the growth hormone-insulin-like growth factor (IGF)-IGF binding proteins axis | Q47239821 | ||
| Multiple endocrine abnormalities of the growth hormone and insulin-like growth factor axis in prepubertal children with exogenous obesity: effect of short- and long-term weight reduction | Q47306356 | ||
| Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes | Q47882350 | ||
| The syndromes of Sotos and Weaver: reports and review | Q48370382 | ||
| Acromegaloidism with normal growth hormone secretion associated with X-tetrasomy. | Q51796219 | ||
| Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations. | Q51909807 | ||
| MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions. | Q51910339 | ||
| Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q. | Q51916101 | ||
| Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. | Q51932583 | ||
| Genotype-phenotype correlation in patients suspected of having Sotos syndrome. | Q52087248 | ||
| A new X-linked mental retardation-overgrowth syndrome. | Q52093498 | ||
| Dominant inheritance of cerebral gigantism | Q52110275 | ||
| Recent insights into neurofibromatosis type 1: clear genetic progress. | Q52186849 | ||
| Somatic overgrowth associated with overexpression of insulin-like growth factor II. | Q52519232 | ||
| Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. | Q53359692 | ||
| Immunoexpression of androgen receptor and nine markers of maturation in the testes of adolescent boys with Klinefelter syndrome: evidence for degeneration of germ cells at the onset of meiosis. | Q53584511 | ||
| Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1 | Q54230989 | ||
| Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). | Q55040034 | ||
| Parental imprinting of the mouse insulin-like growth factor II gene. | Q55052428 | ||
| Elejalde syndrome--a case report | Q56334112 | ||
| Postnatal overgrowth by 15q-trisomy and intrauterine growth retardation by 15q-monosomy due to familial translocation t(13;15): dosage effect of IGF1R? | Q56361543 | ||
| Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome | Q56384124 | ||
| Revised diagnostic criteria for the Marfan syndrome | Q56874464 | ||
| Determination of the molecular basis of Marfan syndrome: a growth industry | Q57197781 | ||
| Evaluation of NSD2 and NSD3 in overgrowth syndromes | Q57272214 | ||
| Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies | Q57273788 | ||
| Primary testicular failure in Klinefelter's syndrome: the use of bivariate luteinizing hormone-testosterone reference charts | Q57420667 | ||
| Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour | Q59088779 | ||
| Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour | Q61657053 | ||
| Lhermitte-Duclos disease associated with Cowden syndrome | Q64045794 | ||
| Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred | Q70578061 | ||
| A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? | Q70646316 | ||
| Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis | Q70996226 | ||
| Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms | Q71828300 | ||
| Deletion mapping of stature determinants on the long arm of the Y chromosome | Q72573357 | ||
| Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency | Q79384274 | ||
| Beckwith-Wiedemann syndrome | Q80359009 | ||
| Diagnosis and treatment of acromegaly | Q80384147 | ||
| Successful treatment of an invasive growth hormone-secreting pituitary macroadenoma in an 8-year-old boy | Q80645630 | ||
| Follow-up and risk of tumors in overgrowth syndromes | Q82200013 | ||
| P304 | page(s) | 213-254 | |
| P577 | publication date | 2008-01-01 | |
| P1433 | published in | Advances in pediatrics | Q26842246 |
| P1476 | title | Overgrowth disorders associated with tall stature | |
| P478 | volume | 55 |
| Q52624728 | A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing. |
| Q36981714 | Childhood soft-tissue sarcoma associated with Sotos syndrome |
| Q38961684 | Genetics of gigantism and acromegaly |
| Q38212206 | Investigation and management of tall stature. |
| Q36503893 | Pituitary gigantism: update on molecular biology and management |
| Q40247847 | Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis |
| Q92967038 | Tall Stature in Children |
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