American Journal of Medical Genetics, Part A

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CDG‐IL: An infant with a novel mutation in theALG9gene and additional phenotypic features
American Journal of Medical Genetics, Part A - Tập 136A Số 2 - Trang 194-197 - 2005
Michael Weinstein, E Schollen, Gert Matthijs, Christine Neupert, Thierry Hennet, Claudia E. Grubenmann, Christian Frank, Markus Aebi, Joe T.R. Clarke, Anne M. Griffiths, L E Seargeant, Nicola Poplawski
AbstractWe describe the second case of congenital disorder of glycosylation type IL (CDG‐IL) caused by deficiency of the ALG9 a1,2 mannosyltransferase enzyme. The female infant's features included psychomotor retardation, seizures, hypotonia, diffuse brain atrophy with delayed myelination, failure to thrive, pericardial effusion, cystic renal disease, hepatosplenomegaly, esotropia, and inverted ni... hiện toàn bộ
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient
American Journal of Medical Genetics, Part A - Tập 137A Số 1 - Trang 22-26 - 2005
Liangwu Sun, Erik A. Eklund, Johan L.K. Van Hove, Hudson H. Freeze, Janet A. Thomas
AbstractCongenital disorder of glycosylation (CDG) type Ic, the second largest subtype of CDG, is caused by mutations in human ALG6 (hALG6). This gene encodes the α1,3‐glucosyltransferase that catalyzes transfer of the first glucose residue to the lipid‐linked oligosaccharide precursor for N‐linked glycosylation. In this report, we describe the first adult patient diagnosed with CDG‐Ic, carrying t... hiện toàn bộ
Overgrowth syndrome associated with a gain‐of‐function mutation of the natriuretic peptide receptor 2 (NPR2) gene
American Journal of Medical Genetics, Part A - Tập 164 Số 1 - Trang 156-163 - 2014
Kouji Miura, Ok‐Hwa Kim, Hey Ran Lee, Noriyuki Namba, Toshimi Michigami, Won Joon Yoo, In Ho Choi, Keiichi Ozono, Tae‐Joon Cho
ABSTRACTThe signal pathway of the C‐type natriuretic (CNP) and its receptor, natriuretic peptide receptor 2 (NPR2) is involved in the longitudinal growth of long bones. Loss of function mutations at NPR2 cause acromesomelic dysplasia, type Maroteaux, while overproduction of CNP by chromosomal translocation and a gain‐of‐function mutation at NPR2 have been reported to be responsible for an overgrow... hiện toàn bộ
Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification
American Journal of Medical Genetics, Part A - Tập 170 Số 5 - Trang 1308-1311 - 2016
Carlos R. Ferreira, Shira G. Ziegler, Ashutosh Gupta, Catherine Groden, Kevin Hsu, William A. Gahl
Patients with generalized arterial calcification of infancy (GACI) develop vascular calcifications early in life. About half of them die within the first 6 months despite optimal medical care. A subset of those who survive eventually develop hypophosphatemic rickets. Since hypophosphatemia and hyperphosphaturia have been previously associated with increased survival in GACI patients, physicians of... hiện toàn bộ
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation
American Journal of Medical Genetics, Part A - Tập 124A Số 3 - Trang 248-254 - 2004
Henrik Rueffert, D Olthoff, C. Deutrich, R. Schober, Ursula G. Froster
AbstractMalignant hyperthermia susceptibility (MHS) and central core disease (CCD) have been shown to result from missense mutations in the ryanodine receptor gene of the skeletal muscle (RYR1). A 15‐year‐old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia. The patient was characterized phenotypically by block vertebrae, vertebral fusion, short neck... hiện toàn bộ
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
American Journal of Medical Genetics, Part A - Tập 167 Số 2 - Trang 271-281 - 2015
Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church
Lateral meningocele syndrome (LMS, OMIM%130720), also known as Lehman syndrome, is a very rare skeletal disorder with facial anomalies, hypotonia and meningocele‐related neurologic dysfunction. The characteristic lateral meningoceles represent the severe end of the dural ectasia spectrum and are typically most severe in the lower spine. Facial features of LMS include hypertelorism and telecanthus,... hiện toàn bộ
Muscle involvement and motor function in amyoplasia
American Journal of Medical Genetics, Part A - Tập 140A Số 16 - Trang 1757-1767 - 2006
Anna‐Karin Kroksmark, Eva Kimber, Ragnar Jerre, Eva Beckung, M. Tulinius
AbstractThe most common form of arthrogryposis multiplex congenita (AMC) is amyoplasia. Diagnostic criteria are highly specific, with decreased muscle mass, typical contractures and limb positioning at birth. Intellectual development is normal. The aims of this study were to investigate how muscle strength and contractures affect motor function in amyoplasia, and to relate current functional statu... hiện toàn bộ
Genetic contribution for non‐syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies
American Journal of Medical Genetics, Part A - Tập 155 Số 7 - Trang 1581-1587 - 2011
Luciano Abreu Brito, Lucas Alvizi Cruz, Kátia M. Rocha, Lígia Kobayashi Bárbara, Camila B.F. Silva, Daniela Franco Bueno, Meire Aguena, Débora Romeo Bertola, Diogo Franco, André Monteiro Costa, Nivaldo Alonso, Paulo Alberto Otto, Maria Rita Passos‐Bueno
AbstractNon‐syndromic cleft lip with or without cleft palate (NS CL/P) is a complex disease in which heritability estimates vary widely depending on the population studied. To evaluate the importance of genetic contribution to NS CL/P in the Brazilian population, we conducted a study with 1,042 families from five different locations (Santarém, Fortaleza, Barbalha, Maceió, and Rio de Janeiro). We a... hiện toàn bộ
Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: A meta‐analysis based on 17 case–control studies
American Journal of Medical Genetics, Part A - Tập 158A Số 9 - Trang 2162-2169 - 2012
Yongchu Pan, Weibing Zhang, Junqing Ma, Yifei Du, Dandan Li, Qi Cai, Hongbing Jiang, Meilin Wang, Zhengdong Zhang, Lin Wang
AbstractMethylenetetrahydrofolate reductase (MTHFR), an important enzyme in folate metabolism, is thought to be involved in the development of nonsyndromic orofacial clefts (NSOC). However, conflicting results have been achieved when evaluating the associations between infants' MTHFR C677T and A1298C polymorphisms and the risk of NSOC. To obtain more precise estimations of these associations, a me... hiện toàn bộ
MTHFR, TGFB3, and TGFA polymorphisms and their association with the risk of non‐syndromic cleft lip and cleft palate in China
American Journal of Medical Genetics, Part A - Tập 152A Số 2 - Trang 291-298 - 2010
Jianghui Zhu, Ling Hao, Song Li, Lynn B. Bailey, Yihua Tian, Li Zhu
AbstractOur previous results indicated a moderate association between the methylenetetrahydrofolate reductase (MTHFR) gene 677C‐T variant and an increased risk of non‐syndromic cleft lip with or without cleft palate (nsCL/P) among the northern but not southern population in China, suggesting possible genetic heterogeneity in the etiology of nsCL/P between these two populations. It remains unknown ... hiện toàn bộ
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