Noonan syndrome
1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency
... Since UH can be revealed using exome sequencing, we used it in a genotype-phenotype correlation study of chromosome 1p13.2 microdeletions. We here report the case of a 21-year-old man with a multisystem phenotype ...
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SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype-Phenotype Correlations
... Figure 2. Detailed analysis of structural perturbations resulting from Noonan syndrome-causing amino acid substitutions. A: Class 1 mutations affecting residues at the distal RAS binding site. The cartoon ...
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Estudo do gene PTPN11 em pacientes com a síndrome de Noonan e crianças com baixa...
... Introduction: Noonan syndrome (NS) is a clinically heterogeneous disorder characterized by proportionate postnatal short stature, dysmorphic facial features, chest deformities and congenital heart disease ...
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Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan
... in Noonan syndrome patients ...INTRODUCTION: Noonan syndrome is an autosomal dominant disorder comprising short stature, facial dysmorphisms (ocular hypertelorism, downslanting palpebral ...
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Variabilidade do fenótipo de pacientes com síndrome de Noonan com e sem mutações no gene PTPN11.
... Introduction: Around 50% of Noonan syndrome (NS) patients present het- erozygous mutations in the PTPN11 gene. Aim: To evaluate the frequency of mutations in the PTPN11 in patients with NS, and perform ...
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Síndrome de Noonan: do fenótipo à terapêutica com hormônio de crescimento.
... Noonan Syndrome (NS) is one of the most common genetic syndromes and it is an important differential diagnosis in children with short stature, delayed puberty and ...
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Síndrome de Noonan : relato de caso.
... 4. Legius E, Schollen E, Matthijs G, Fryns JP. Fine mapping of Noonan/cardio- facio cutaneous syndrome in a large family. Eur J Hum Genet. 1998;6(1):32-7. 5. Bertola DR, Sugayama SMM, Albano LMJ, Chong AK, ...
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Doença celíaca associada à tireoidite de Hashimoto e síndrome de Noonan.
... Case description: A Caucasian girl aged ten years and six months had liquid diarrhea for ive months, and a “dis- tended belly”. At the physical exam: weight of 20,580g (P<3), length of 114cm (P<3), hydrated, anemic ...
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Estudo dos genes PTPN11 e KRAS em pacientes afetados pela síndrome de Noonan e pelas...
... with Noonan syndrome and PTPN11 gene mutation had a higher incidence of short stature and pulmonary valve stenosis and a lower incidence of hypertrophic ...to Noonan and cardiofaciocutaneous ...
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Conservative management of see open bite and feeding difficulties in patient witii Noonans Syndrome
... We report on a case of a patient with Noonan syndrome, severe open bite, associated feeding difficulties, and strong gag reflex, discussing conservative management with myofunctional the[r] ...
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High specificity PCR screening for 22q11.2 microdeletion in three different ethnic groups
... Understanding the etiology of DiGeorge syndrome has been confounded by several observations including the fact that deletion size does not correlate with phenotype. Carlson et al. (13) have determined that ap- ...
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Sao Paulo Med. J. vol.121 número3
... malignant syndrome associated with acute respiratory dis- tress ...malignant syndrome is a disease that is difficult to ...distress syndrome is another manifes- tation of neuroleptic malignant ...
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Rev. Bras. Reumatol. vol.51 número3 en v51n3a09
... impingement syndrome, however, is rarely suspected in daily medical ...impingement syndrome was established, adequate therapy started, and satisfactory response ...
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Sleep overlap syndrome
... Overlap syndrome, which is known as the coexistence of chronic obstructive pulmonary disease (COPD) and obstructive sleep apnea (OSA), was first defined by ...overlap syndrome is commonly considered as the ...
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Pigment dispersion syndrome
... The purpose of presenting this case is to caution clinicians regarding the possible association of PDS in young myopes with Krukenberg's spindle. Many patients with PDS remain undetected, while those with glaucoma are ...
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Arq. NeuroPsiquiatr. vol.70 número9
... limbs syndrome; however, in the patients with stif three-limbs or stif one-limb syndrome, it was not diagnostic, and the diag- nosis was conirmed after high serum anti-GAD antibodies had been ...
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Síndrome Respiratória do Médio Oriente. Infeção pelo novo Coronavírus Middle East Respiratory Syndrome (MERS-CoV) – Normas de Orientação Clínica
... Os doentes em investigação (casos prováveis) ou confirmados devem são internados de acordo com as indicações da Linha de Apoio ao Médico da DGS e, sempre que possível, em qu[r] ...
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Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children
... In addition to SNHL, syndromic cases suffer from skeletal, cardiac, renal, and ocular anomalies that may be life- threatening. According to medical research, morphologic abnormalities of the ear, face, or other organs ...
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PIRIFORMIS SYNDROME: A REVIEW
... Physiotherapy: Patients with piriformis syndrome are treated with physiotherapy involving a variety of motion exercises and stretching techniques. The goal of physiotherapy is symptom elimination through a ...
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Peutz Jeghers syndrome
... Peutz-Jeghers syndrome (PJS) after previous surgical interventions for intestinal ...Peutz-Jeghers syndrome because of the risk of complications related to polyps, and the asso ciation with ...
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