American Journal of Medical Genetics, Part A

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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...... 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 ...... 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 phe...... 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 ...... hiện toàn bộ
Rett syndrome in females with CTS hot spot deletions: A disorder profile
American Journal of Medical Genetics, Part A - Tập 132A Số 2 - Trang 117-120 - 2005
E. Smeets, Pauline Terhal, Paul Casaer, A. C. B. Peters, Alina T. Midro, Els Schollen, Kees van Roozendaal, Ute Moog, Gert Matthijs, J. Herbergs, H. Smeets, Leopold Curfs, C. T. R. M. Schrander‐Stumpel, J. P. Fryns
AbstractFrom a series of 107 females with Rett syndrome (RTT), we describe the long‐term history of ten females with a deletion in the C‐terminus of the MECP2 gene. We observed that their disorder profile is clinically recognizable with time and different from other atypical and milder RTT phenotypes. In females with hot spot deletions in...... hiện toàn bộ
MECP2 deletions and genotype–phenotype correlation in Rett syndrome
American Journal of Medical Genetics, Part A - Tập 143A Số 23 - Trang 2775-2784 - 2007
Elisa Scala, Ilaria Longo, Federica Ottimo, Caterina Speciale, Katia Sampieri, Eleni Katzaki, Rosangela Artuso, Maria Antonietta Mencarelli, Tatiana D'Ambrogio, Giuseppina Vonella, Michele Zappella, Joussef Hayek, Agatino Battaglia, Francesca Mari, Alessandra Renieri, Francesca Ariani
AbstractRett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. MECP2 point mutations in exons 2–4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the genetic cause in 77 mutation‐negative Rett patients ...... hiện toàn bộ
Association between 7q31 markers and tourette syndrome
American Journal of Medical Genetics, Part A - Tập 127A Số 1 - Trang 17-20 - 2004
Adriana Díaz‐Anzaldúa, Ridha Joober, Jean‐Baptiste Rivière, Yves Dion, Paul Lespérance, Sylvain Chouinard, François Richer, Guy A. Rouleau
AbstractTourette syndrome (TS) is a complex neuropychiatric disorder with a strong genetic basis. Although no specific susceptibility genes have been identified for TS, cytogenetic studies in selected cases suggest the existence of a predisposing gene located in the 7q31 chromosomal region. In order to test the hypothesis of a possible relationship between this reg...... hiện toàn bộ
Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case
American Journal of Medical Genetics, Part A - Tập 152A Số 12 - Trang 3164-3172 - 2010
Aline Petrin, Célia Maria Giacheti, Luciana Paula Maximino, Dagma Venturini Marques Abramides, Sthella Zanchetta, Natalia Freitas Rossi, Antônio Richieri‐Costa, Jeffrey C. Murray
AbstractSpeech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and abo...... hiện toàn bộ
Yellow teeth, seizures, and mental retardation: A less severe case of Kohlschütter–Tönz syndrome
American Journal of Medical Genetics, Part A - Tập 140A Số 3 - Trang 281-283 - 2006
Edda Haberlandt, Christine Svejda, S. Felber, Susanne E. Baumgartner, Barbara Günther, Gerd Utermann, Dieter Kotzot
AbstractWe describe an 11‐year‐old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter–Tönz syndrome. Compared to other reported cases of the syndrome, our patient had less severe developmental delay. Also, spasticity and loss of mental capacity should not be considered obligatory ma...... hiện toàn bộ
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis
American Journal of Medical Genetics, Part A - Tập 176 Số 2 - Trang 487-491 - 2018
Benjamin R. Ittleman, Jasmine Mckissick, Katherine A. Bosanko, Eylem Öcal, Michael S. Golinko, Yuri A. Zárate
Tổng số: 78   
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