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Journal of pediatric genetics
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307
Papers 329
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#2Purificación Marín-Reina (Group Health Research Institute)H-Index: 2
Last.Antonio Pérez-Aytés (Group Health Research Institute)
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Langer–Giedion's syndrome (LGS) or trichorhinophalangeal syndrome type II (TRPS II; MIM:150230) is a contiguous gene deletion syndrome caused by the haploinsufficiency of the TRPS1 and EXT1 genes. Cornelia de Lange's syndrome (CdLS) is a genetically heterogeneous dysmorphic syndrome where heterozygous mutations of RAD21 gene have been associated with a mild clinical presentation (CDLS type 4; MIM: 614701). We report a female patient with a 2.3-Mb interstitial deletion at 8q23.3-q24.1 encompassin...
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#1Paola E. LeoneH-Index: 12
#2A. Pérez-VillaH-Index: 1
Last.César Paz-y-MiñoH-Index: 17
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Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplicatio...
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#1Cláudia Daniela Barbian (UCSC: University of California, Santa Cruz)H-Index: 1
#2Cézane Priscila Reuter (UCSC: University of California, Santa Cruz)H-Index: 6
Last.Miria Suzana Burgos (UCSC: University of California, Santa Cruz)H-Index: 7
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#1Etna MasipH-Index: 3
#2Ester DonatH-Index: 11
Last.Carmen Ribes-KoninckxH-Index: 4
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Metabolic alkalosis is uncommon in infancy. Cystic fibrosis (CF) patients can develop dehydration because of sweat salt or gastrointestinal losses; with the correct salt supplementation, the electrolyte alterations can be reversed. Here, we present a CF patient with recurrent metabolic alkalosis, initially oriented as pseudo-Bartter's syndrome. However, despite accurate treatment, patient needed daily intravenous fluids to maintain homeostasis. An extended study was made, including a urine study...
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#1Ceylan Altintas Taslicay (Kocaeli University)
#2Elmire Dervisoglu (Kocaeli University)
Last.Yonca Anik (Kocaeli University)H-Index: 16
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PHACE syndrome (OMIM 606519) is a rare neurocutaneous vascular disorder, characterized by posterior fossa malformations, large cervicofacial infantile hemangiomas, arterial anomalies, aortic coarctation, cardiac abnormalities, and eye abnormalities. The long-term outcome of PHACE syndrome patients is unclear; however, it seems that they are at risk for childhood stroke. The radiologist has an important role on diagnosis of PHACE syndrome and in the assessment of potential complications. Investig...
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#1Carla Bastos da Costa Almeida (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)
#2Amanda Thum Welter (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)
Last.Rafael Fabiano Machado Rosa (UFCSPA: Universidade Federal de Ciências da Saúde de Porto Alegre)H-Index: 14
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Roberts syndrome is a rare autosomal recessive genetic disease. In this report, we report a Brazilian patient with a rare ESCO2 variant. The patient manifested a broad range of clinical findings including the significant, bilateral shortening of the extremities. He deteriorated and passed away at 20 days of age. High-resolution GTG-banded karyotype showed lack of centromeric constriction in some chromosomes, premature centromere separation in others, and repulsion of the heterochromatin regions....
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#1Emine Ikbal Atli (Trakya University)H-Index: 2
#2Hakan Gurkan (Trakya University)H-Index: 5
Last.Cisem Mail (Trakya University)
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