Disease: Short stature webbed neck heart disease
- 45,X/46,XY Mosaicism with Male Phenotype: Case Report
- 45,XO/46,X,dic(Yq) mosaicism in Turner's phenotype with endodermal sinus tumor of the ovary
- 45,XO/46,XY in a newborn with the stigmata of Turner syndrome: report of one case
- A "new" lethal multiple congenital anomaly syndrome: joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malf
- A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows
- A case of Turner syndrome with hyperparathyroidism in an adult
- A fertile patient with 45X/47XXX mosaicism
- A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes
- A girl with inverted triplication of chromosome 3q25.3 --> q29 and multiple congenital anomalies consistent with 3q duplication syndrome
- A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
- A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions
- A syndrome of short stature, mental retardation, facial dysmorphism, short webbed neck, skin changes and congenital heart disease
- A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome
- Alexithymia, emotion perception, and social assertiveness in adult women with Noonan and Turner syndromes
- ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review
- An anthropometric study of cases with Turner syndrome and XYY
- Analysis of the SRY gene in a girl with 45,X/46,XY genotype
- Aortic dissection in Turner syndrome
- Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2
- Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome
- Cardiovascular dysplasia in Noonan's syndrome. Apropos of 64 cases
- Clinical and cytogenetic features of 516 patients with suspected Turner syndrome - a single-center experience
- Clinical and genetic analysis of a case of Turner syndrome with rapidly progressive puberty and a literature review
- Clinical picture in patients with 46,X,i(Xq) karyotype. Are there differences from Turner syndrome?
- Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation
- Communication problems in Turner syndrome: a sample survey
- Conservative management of severe open bite and feeding difficulties in patient with noonan syndrome
- Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
- Cutaneous manifestations of Noonan's syndrome
- Defining language disorders in children and adolescents with Noonan Syndrome
- Delayed diagnoses of Turner's syndrome: proposed guidelines for change
- Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method
- Diagnosis of an Ullrich-Turner syndrome in pension evaluation
- Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
- Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1
- Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report
- Features of Turner syndrome among a group of Cameroonian patients
- Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency
- Further evidence of the importance of RIT1 in Noonan syndrome
- Generalized epilepsy in a patient with mosaic Turner syndrome: a case report
- GH Responsiveness in Children With Noonan Syndrome Compared to Turner Syndrome
- Giant cell lesions with a Noonan-like phenotype: a case report
- Halo nevus, rather than vitiligo, is a typical dermatologic finding of turner's syndrome: clinical, genetic, and immunogenetic study in 72 patients
- Hormonal therapy in a patient with a delayed diagnosis of Turner's syndrome
- Imatinib, a New Adjuvant Medical Treatment for Multifocal Villonodular Synovitis Associated to Noonan Syndrome: A Case Report and Literature Review
- Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China
- KBG syndrome
- Lethal faciocardiomelic dysplasia- a new autosomal recessive disorder
- Limb pterygium syndromes: a review and report of eleven patients
- Lymphstasis in a boy with Noonan syndrome: implication for the development of skeletal features
- Male patient with non-mosaic deleted Y-chromosome and clinical features of Turner syndrome
- MAPK activation in mature cataract associated with Noonan syndrome
- Mosaic double aneuploidy (45,X/47,XX,+8) with aortic dissection
- Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome
- Multiple café au lait spots in familial patients with MAP2K2 mutation
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
- Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
- Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient
- New aspects in diagnosis and therapy of Turner's syndrome
- Noonan phenotype associated with neurofibromatosis
- Noonan Syndrome
- Noonan syndrome
- Noonan syndrome
- Noonan syndrome
- Noonan syndrome
- Noonan syndrome and correction of the webbed neck
- Noonan syndrome and related disorders: genetics and pathogenesis
- Noonan syndrome associated with central giant cell granuloma
- Noonan syndrome, moyamoya-like vascular changes, and antiphospholipid syndrome
- Noonan syndrome: a clinical and genetic study of 31 patients
- Noonan's syndrome associated with polycistic renal disease
- Noonan's syndrome with an unusual combination of hypertrophic cardiomyopathy, congenital bicuspid aortic valve, coarctation of the aorta and hypoplastic aortic arch
- Orbital manifestations of Noonan syndrome
- Orofacial aspects in Noonan syndrome: 2 case report
- Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation
- Portal vein thrombosis in a patient with Turner's syndrome: a case report
- Progression of nonimmune hydrops in a fetus with Noonan syndrome
- Serum T3, T4, FT3, TSH and TBG in Turner's syndrome
- Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis
- Tactile Sensitivity of Women with Turner Syndrome
- Telomeric association between chromosomes Y and 19 in a mosaic Turner with primary ovarian insufficiency
- Thromboembolic infarcts occurring after mild traumatic brain injury in a paediatric patient with Noonan's syndrome
- Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata
- Turner syndrome diagnosed in northeastern Malaysia
- Turner syndrome mosaicism: Challenges in identification and management in primary care
- Turner syndrome: a case of gonadal dysgenesis
- Turner syndrome: diagnosis and management
- Turner's syndrome in the male; report of a case showing defects such as short stature, sexual underdevelopment, webbed neck and various other congenital defects without any increased urinary pituitary gonadotropins
- Turner's syndrome, diagnosis and therapeutical approach
- Unusual dysmorphic features in five patients with Noonan's syndrome: a brief review
- Unusual Turner syndrome mosaic with a triple x cell line (47,X/49,XXX) in a western lowland gorilla (Gorilla gorilla gorilla)
- Use of a Spinal-Caudal Epidural Technique for Abdominal Surgery in a Newborn With Noonan Syndrome and Severe Hypertrophic Cardiomyopathy
- Warty skin changes, chronic scrotal lymphoedema, and facial dysmorphism