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1-20 of 22
Keywords: Mutation
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Journal Articles
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (2): 181–184.
Published Online: 20 April 2023
...(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. 2023 Congenital disorder of glycosylation COG5 Mutation Prenatal testing Fetus COG5-congenital disorder...
Journal Articles
Subject Area:
Karger e-Journal Backfile Collection 2023
,
Endocrinology
,
Further Areas
,
Genetics
,
Women's and Children's Health
Ying Duan, Yu Xia, Zhuwen Gong, Huili Liu, Lili Liang, Kaichuang Zhang, Yi Yang, Ruifang Wang, Bing Xiao, Wenjuan Qiu
Journal:
Molecular Syndromology
Mol Syndromol (2023) 14 (1): 71–79.
Published Online: 06 February 2023
... 3 Chinese patients with MRAP or MC2R mutations. Case Reports: Patient 1 presented with hyperpigmentation. Endocrine investigations revealed low serum cortisol levels and elevated adrenocorticotropic hormone (ACTH) levels. Furthermore, low serum sodium was evident. She was diagnosed with FGD type 2...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2022) 13 (4): 343–349.
Published Online: 02 March 2022
... matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by biallelic loss-of-function mutations in the NUP188 gene. Case Presentation: In the physical examination of our patient, whose mother and father were third-degree relatives, hypotonia, bilateral...
Journal Articles
Saranya Varadarajan, Thodur Madapusi Balaji, A. Thirumal Raj, Archana A. Gupta, Shankargouda Patil, Tariq Hassan Alhazmi, Halah Athman Ali Alaqi, Neda Essa M. Al Omar, Somayh Abu Baker A. Almutaher, Alhassen Abdurabu Jafer, Ismaeel Abker Hedad
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (2): 69–86.
Published Online: 18 March 2021
... with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2021) 12 (2): 96–100.
Published Online: 16 February 2021
.... Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 ( EXT1 ) and exostosin glycosyl transferase-2 ( EXT2 ) were the main cause of MO. In this study, we enrolled 2 families with MO. Sanger sequencing revealed 2 novel frameshift mutations – c.1432_1433insCCCCCCT...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2019) 10 (5): 272–275.
Published Online: 27 August 2019
... clinical examination, biochemical tests, and molecular analysis. Hereby, a novel c.870G>A nonsense homozygous mutation was found responsible for the loss of the enzyme activity. [email protected] 26 07 2019 27 8 2019 © 2019 S. Karger AG, Basel 2019 Copyright / Drug Dosage...
Journal Articles
Pratibha Nair, Sandra Sabbagh, Sami Bizzari, Florian Brunner, Samantha Stora, Mahmoud T. Al-Ali, Martin Gencik, Stephany El-Hayek, André Mégarbané
Journal:
Molecular Syndromology
Mol Syndromol (2019) 10 (4): 219–222.
Published Online: 28 June 2019
... of the literature, the importance of this mutation in the Lebanese population, and the possibility that this condition may be underdiagnosed and only effectively detected using molecular techniques such as WES are discussed. [email protected] 11 05 2019 28 6 2019 © 2019 S...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2017) 8 (4): 179–186.
Published Online: 26 April 2017
... of blindness worldwide. Although significant work has been done, the genetic aspect of age-related cataract is still in its infancy. The current study was performed to analyze the mutations and polymorphisms in the CRYAA , CRYAB , CRYBB1 , and GJA8 genes in 40 unrelated age-related cataract patients...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2016) 7 (1): 3–11.
Published Online: 12 April 2016
... exonic point mutations account for a small percentage of cases. The clinical severity of SHOX haploinsufficiency reflects hormonal conditions rather than mutation types. Growth hormone treatment seems to be beneficial for cases with SHOX haploinsufficiency, although the long-term outcomes of this therapy...
Journal Articles
Gustavo H. Vieira, Melissa M. Cook, Renata L. Ferreira De Lima, Carlos E. Frigério Domingues, Daniel R. de Carvalho, Isaias Soares de Paiva, Danilo Moretti-Ferreira, Anand K. Srivastava
Journal:
Molecular Syndromology
Mol Syndromol (2015) 6 (1): 32–38.
Published Online: 21 January 2015
..., distinctive facial features and variable degree of intellectual disability. Haploinsufficiency of the NSD1 gene at 5q35.3, arising from 5q35 microdeletions, point mutations, and partial gene deletions, accounts for a majority of patients with SoS. Recently, mutations and possible pathogenetic rare CNVs, both...
Journal Articles
Mustapha Amyere, Anne Dompmartin, Vinciane Wouters, Odile Enjolras, Ilkka Kaitila, Pierre-Louis Docquier, Catherine Godfraind, John Butler Mulliken, Laurence Myriam Boon, Miikka Vikkula
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (6): 259–267.
Published Online: 26 August 2014
... (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations...
Journal Articles
C. Dubourg, F. Bonnet-Brilhault, A. Toutain, C. Mignot, A. Jacquette, A. Dieux, M. Gérard, M.-P. Beaumont-Epinette, S. Julia, B. Isidor, M. Rossi, S. Odent, C. Bendavid, C. Barthélémy, A. Verloes, V. David
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (2): 57–64.
Published Online: 20 February 2014
..., self-injurious behaviors and dysmorphic features. It is estimated to occur in 1/25,000 births, and in 90% of cases it is associated with interstitial deletions of chromosome 17p11.2. RAI1 (retinoic acid induced 1; OMIM 607642) mutations are the second most frequent molecular etiology, with this gene...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2014) 5 (1): 36–40.
Published Online: 04 October 2013
...E. Martínez-Quintana; F. Rodríguez-González; P. Garay-Sánchez; A. Tugores CHARGE syndrome is a rare congenital condition characterized by 6 cardinal features: coloboma, heart defect, atresia choanae, retarded growth and development, genital anomalies, and ear anomalies/deafness. Mutations...
Journal Articles
A. Mendola, M.J. Schlögel, A. Ghalamkarpour, A. Irrthum, H.L. Nguyen, E. Fastré, A. Bygum, C. van der Vleuten, C. Fagerberg, E. Baselga, I. Quere, J.B. Mulliken, L.M. Boon, P. Brouillard, M. Vikkula, The Lymphedema Research Group
Journal:
Molecular Syndromology
Mol Syndromol (2013) 4 (6): 257–266.
Published Online: 04 September 2013
... to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in an autosomal dominant or recessive manner. It can also occur in combination with other clinical features. Nine mutated genes...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2013) 4 (4): 203–206.
Published Online: 13 February 2013
..., diagnosis, management, and outcome of 2 siblings with MPS II and the G374sp mutation at the nucleotide c.1246 of the gene encoding for the iduronate-2-sulfatase. Congenital metabolic disorders result from the absence or abnormality of an enzyme or its cofactor, leading to either accumulation...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2013) 4 (3): 148–151.
Published Online: 30 January 2013
..., the question whether SMD-A belongs to type II collagenopathy (a group of disorders due to a heterozygous mutation of - COL2A1 ) has been continuously under debate. Here we report a 7-year-old Japanese boy with a heterozygous missense mutation in COL2A1 , 2582G>T (Gly861Val), whose phenotype matched...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2013) 3 (6): 255–261.
Published Online: 01 December 2012
...S. Ben-Salem; M.A. Begum; B.R. Ali; L. Al-Gazali Carpenter syndrome is caused by mutations in the RAB23 gene that encodes a small GTPase of the Rab subfamily of proteins. Rab proteins are known to be involved in the regulation of cellular trafficking and signal transduction. Currently, only few...
Journal Articles
I. Balogh, K. Koczok, G.P. Szabó, O. Török, K. Hadzsiev, G. Csábi, L. Balogh, E. Dzsudzsák, É. Ajzner, L. Szabó, V. Csákváry, A.V. Oláh
Journal:
Molecular Syndromology
Mol Syndromol (2012) 3 (5): 215–222.
Published Online: 08 November 2012
... by the disease. The estimated prevalence of SLO syndrome ranges between 1:20,000 and 1:40,000 among Caucasians. Although the mutational spectrum of the disease is wide, approximately 10 mutations are responsible for more than 80% of the cases. These mutations show a large interethnic variability...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2012) 3 (4): 145–157.
Published Online: 29 August 2012
...E. Martínez-Quintana; F. Rodríguez-González The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic...
Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2012) 3 (1): 30–33.
Published Online: 16 May 2012
...E. Athanasakis; A. Fabretto; F. Faletra; M. Mocenigo; A. Morgan; P. Gasparini Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint hyperlaxity, severe myopia, characteristic facial dysmorphisms...
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