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Clinical Dysmorphology

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https://www.readbyqxmd.com/read/27870659/a-novel-twist1-gene-mutation-in-a-patient-with-saethre-chotzen-syndrome
#1
Şule Altiner, Halil G Karabulut, Kanay Yararbaş, Ajlan Tükün, Corinne Collet, Pinar Kocaay, Merih Berberoğlu, Hatice Ilgin Ruhi
No abstract text is available yet for this article.
November 18, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27824632/ichthyosis-congenita-with-biliary-atresia-a-rare-association
#2
Shrikiran Aroor, Sandeep Kumar, Suneel Mundkur, Katta M Girisha
No abstract text is available yet for this article.
November 7, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27759572/de-novo-pure-partial-trisomy-6-p22-3%C3%A2-pter-a-case-report-and-review-of-the-literature
#3
Aswini Sivasankaran, Kanakavalli Murthy, Venkata P Oruganti, Anuradha Deenadayalu, Chandra R Samuel, Lakshmi R Kandukuri
Partial trisomy of the short arm of chromosome 6 is a rare and clinically distinct syndrome. The breakpoints have been found to be variable ranging from bands 6p11 to 6p25. This study reports partial trisomy for 6p22.3→pter in a 2-year-old boy referred with a complaint of developmental delay and facial dysmorphism. Conventional cytogenetic analysis showed the presence of an abnormal chromosome 5 resulting from an unbalanced translocation in the proband. Array comparative genomic hybridization revealed trisomy of distal 6p which was confirmed by fluorescence in situ hybridization using subtelomeric probes for chromosomes 5 and 6...
October 18, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27750268/the-twist2-mutation-causes-setleis-syndrome-a-rare-clinical-case-report
#4
Akif Ayaz, Sinem Yalcintepe, Ozge Ozalp Yuregir, Yavuz Sahin, Ahmet Ozer, Metin Eser, Umit Celik
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27750267/a-del-13-q21-32q31-2-dn-refined-to-21-9%C3%A2-mb-in-a-female-toddler-with-irides-heterochromia-and-hypopigmentation-appraisal-of-interstitial-mid-13q-deletions
#5
Carlos Córdova-Fletes, Horacio Rivera, Eduardo A Garza-Villarreal, Norma A Vázquéz-Cárdenas, Lizeth A Martínez-Jacobo, Talia Moreno-Andrade
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27740950/the-finnish-founder-mutation-c-70-a-g-in-rmrp-causes-cartilage-hair-hypoplasia-in-a-pakistani-family
#6
Muddassar Iqbal, Niaz Muhammad, Sheikh A Ali, Svetlana Kostjukovits, Outi Mäkitie, Sadaf Naz
No abstract text is available yet for this article.
October 12, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753653/short-case-report-xq23-deletion-involving-pak3-as-a-novel-cause-of-developmental-delay-in-a-6-year-old-boy
#7
Ashley Cartwright, Kath Smith, Meena Balasubramanian
No abstract text is available yet for this article.
October 6, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753652/raf1-associated-noonan-syndrome-presenting-antenatally-with-an-abnormality-of-skull-shape-subdural-haematoma-and-associated-with-novel-cerebral-malformations
#8
Verity L Hartill, Mitchell W Dillon, Daniel J Warren, Moira Blyth
No abstract text is available yet for this article.
October 6, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27753651/familial-kagami-ogata-syndrome-in-chinese
#9
Ho-Ming Luk
No abstract text is available yet for this article.
October 6, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27749393/a-case-of-9q21-11q22-1-triplication-with-novel-ophthalmic-features
#10
Neeru A Vallabh, Aram Buchanan, Magda Ainscough, William Newman, Alan Fryer
No abstract text is available yet for this article.
October 4, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27749392/combined-ultrasound-and-exome-sequencing-approach-recognizes-opitz-g-bbb-syndrome-in-two-malformed-fetuses
#11
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27552067/holt-oram-syndrome-because-of-the-novel-tbx5-mutation-c-481a-c
#12
Hatice Koçak Eker, Umut Altunoglu, Güven Toksoy, Hülya Kayserili
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27500316/thoracic-dimples-and-dysmorphic-features-associated-with-a-partial-duplication-and-triplication-of-chromosome-12q24
#13
Ines V B Somers, Marek Wojciechowski, Sigri Beckers, Liesbeth Rooms, Frank Kooy, Marije E C Meuwissen
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27465822/rubinstein-taybi-syndrome-type-2-report-of-nine-new-cases-that-extend-the-phenotypic-and-genotypic-spectrum
#14
Mark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Jane A Hurst, Emma Clement, William Reardon, Shelagh Joss, Emma Hobson, Moira Blyth, Maryam Al-Shehhi, Sally A Lynch, Mohnish Suri
Rubinstein-Taybi syndrome (RTS) is an autosomal dominant neurodevelopmental disorder characterized by growth deficiency, broad thumbs and great toes, intellectual disability and characteristic craniofacial appearance. Mutations in CREBBP account for around 55% of cases, with a further 8% attributed to the paralogous gene EP300. Comparatively few reports exist describing the phenotype of Rubinstein-Taybi because of EP300 mutations. Clinical and genetic data were obtained from nine patients from the UK and Ireland with pathogenic EP300 mutations, identified either by targeted testing or by exome sequencing...
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27379772/de-barsy-syndrome-type-b-presenting-with-cardiac-and-genitourinary-abnormalities
#15
Atanu K Dutta, Alka V Ekbote, Niranjan Thomas, Sabitha Omprakash, Sumita Danda
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27295358/beaulieu-boycott-innes-syndrome-an-intellectual-disability-syndrome-with-characteristic-facies
#16
Jillian Casey, Allan Jenkinson, Alex Magee, Sean Ennis, Ahmad Monavari, Andrew Green, Sally A Lynch, Ellen Crushell, Joanne Hughes
We report a female child from an Irish Traveller family presenting with severe intellectual disability, dysmorphic features, renal anomalies, dental caries and cyclical vomiting. Current health issues include global developmental delay, mild concentric left ventricular hypertrophy, dental malocclusion and caries and a single duplex left kidney. The proband and her mother also have multiple epiphyseal dysplasia. Whole-exome sequencing was performed to identify the underlying genetic cause. DNA from the proband was enriched with the Agilent Sure Select v5 Exon array and sequenced on an Illumina HiSeq...
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27261974/novel-sequence-variations-in-the-thymidine-phosphorylase-gene-causing-mitochondrial-neurogastrointestinal-encephalopathy
#17
Arun Karyampudi, Priyanka Srivastava, Kausik Mandal, Prabhaker Yadav, Uday C Ghoshal, Abhai Verma, Shubha R Phadke
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27253321/3p14p12-deletion-syndrome-report-of-a-new-case-providing-further-evidence-of-a-clinically-recognizable-syndrome
#18
Katie Johnson, Katherine Yates, Katherine Martin, Mohnish Suri
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27233067/novel-compound-heterozygous-mutations-in-inositol-polyphosphate-phosphatase-like-1-in-a-family-with-severe-opsismodysplasia
#19
Cori Feist, Paul Holden, Jamie Fitzgerald
This study aimed to identify the genetic basis of a severe skeletal lethal dysplasia. The main clinical features of two affected fetuses included short limbs with flared metaphyses, bowed radii, femora and tibiae, irregular ossification of hands and feet, and marked platyspondyly. Affected and nonaffected family members were subjected to whole-exome sequencing, followed by immunoblot analysis on amniocytes isolated from one of the affected individuals. Unique compound heterozygous variants in the inositol polyphosphate phosphatase-like 1 (INPPL1) gene encoding the SHIP2 protein were identified in both affected individuals...
October 2016: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27092434/a-novel-de-novo-wnt5a-mutation-in-a-chinese-patient-with-robinow-syndrome
#20
Shiyi Xiong, David Chitayat, Xing Wei, Jialiang Zhu, Wen Lu, Lu Ming Sun, Maya Chopra
No abstract text is available yet for this article.
October 2016: Clinical Dysmorphology
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