NSTL国家科技图书文献中心

1. MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability NSTL国家科技图书文献中心

Kao, Eric C. | Mizerik, Elizabeth A...... - 《American journal of medical genetics,Part A》 - 2025,197A(1) - e63868～e63868 - 共6页

摘要： nonsense, and one splice variant. Nine of these variants | variants are a cause of CDH+ in females with Hardikar | required for the assembly of the kinase module of | formation of the RNA polymerase II-mediated preinitiation | variants, and X-linked dominant Hardikar syndrome and

关键词： CDH | CDH plus | congenital diaphragmatic hernia | Hardikar syndrome | intellectual disability | Lujan-Fryns syndrome | MED12 | mediator complex subunit 12 | Ohdo syndrome | Opitz-Kaveggia syndrome...

2. Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome NSTL国家科技图书文献中心

Waskow, Emily R. | Emrick, Lisa T.... - 《American journal of medical genetics,Part A》 - 2025,197A(1) - e63845～e63845 - 共7页

摘要： variants in DPH1, they were given a diagnosis of | of Fine-Lubinsky syndrome be screened for variants | the effects of intronic variants* that may affect* | . However, a research reanalysis of their exome sequencing | revealed significantly reduced expression of DPH1

关键词： DEDSSH1 | DPH1 | exome sequencing | Fine-Lubinsky syndrome | nonsense mediated mRNA decay | RNAseq | Fine–Lubinsky syndrome

3. Loss-of-function SLC25A20 variant causes carnitine-acylcarnitine translocase deficiency by reducing SLC25A20 protein stability NSTL国家科技图书文献中心

Gan, Zhongzhi | Wei, Xiaofeng ... - 《Gene》 - 2025,940 - Article 149201～Article 149201 - 共9页

摘要： and c.476 T > C) are loss-of-function* variants. Our* | variants of SLC25A20 (c.476 T > C and c.199-10 T > G) in | decreased stability of the SLC25A20 variants* c.476 T > C* | disorder of long-chain fatty acid oxidation caused by | variants in the SLC25A20 gene, leading to energy

关键词： CACTD | Compound heterozygous variants | c.199-10T> | G and c.476T> | C variants | Loss-of-function | Protein stability

4. Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series NSTL国家科技图书文献中心

Sara Gracie | Prasannakumar Deshpa...... - 《American journal of medical genetics,Part A》 - 2025,197A(3) - e63927～e63927 - 共10页

摘要：ABSTRACT Heterozygous de novo loss of function | variants in the motor domain of KIF5C are associated with | Glu237Lys), of which four variants* have not been reported* | pathogenic KIF5C variants. Evaluation of the | neurodevelopmental phenotype of additional individuals with loss* of*

关键词： developmental delay | epilepsy | failure to thrive | intellectual disability | KIF5C

5. Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel SUPT5H Variants NSTL国家科技图书文献中心

Hasan, Nik Fatma Fai... | Achour, Ahlem ... - 《Hemoglobin》 - 2025,49(2) - 145～148 - 共4页

摘要： characterized as Loss-of-Function* variants either by* | -of-Function* variants. This gene should be* | novel variants* of SUPT5H revealed by next generation* | variants in genes coding for erythroid transcriptional | as a mimicker of beta thalassemia trait in two

关键词： Increased Hb A(2) | SUPT5H | mutation | beta thalassemia

6. Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect NSTL国家科技图书文献中心

Gregersen, Pernille ... | Hammarsjo, Anna ... - 《Clinical Genetics》 - 2025,107(1) - 78～82 - 共5页

摘要： biallelic loss* of function variants in BMP5 and a* | BMP5 variants* and a range of developmental anomalies* | The growth and development of the skeleton is | regulated by bone morphogenetic proteins of which several | variants in BMP5. Here, we report a patient with

关键词： BMP5 | cardiac malformation | rare disease | skeletal dysostosis | skeletal dysplasia

7. A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus NSTL国家科技图书文献中心

Bulut, Guelnihal | Turgut, Gozde Tutku ... - 《Molecular syndromology》 - 2025,16(1) - 69～76 - 共8页

摘要： delayed myelination. Bi-allelic loss-of-function | , periventricular white matter loss, thin corpus callosum, and | variants in the Nucleoporin 188 (NUP188) (MIM:615587 | , presented with tetralogy of Fallot, bilateral congenital | history of a similarly affected ex-sibling. Whole exome

关键词： NUP188 | Hydrocephalus | Whole exome sequencing | Autosomal recessive | Novel mutation

8. Characterization of Two Novel PNKP Splice‐Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations NSTL国家科技图书文献中心

Ugo Sorrentino | Elisa Baschiera ... - 《American journal of medical genetics,Part B.Neuropsychiatric genetics》 - 2025,198B(2) - e33013～e33013 - 共7页

摘要： maintenance of human nervous system. PNKP biallelic loss‐of | ‐function* variants have been associated with a broad* | ‐5del. To demonstrate the effect of both variants* on* | spectrum of neurological anomalies, ranging from | seizures (MCSZ), to later onset forms of ataxia

关键词： atresia | autosomal recessive microcephaly | MCSZ | PNKP | seizures

9. Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants NSTL国家科技图书文献中心

Penon-Portmann, Moni... | Naugle, Kendyl ... - 《American journal of medical genetics,Part A》 - 2025,197A(1) - e63846～e63846 - 共7页

摘要： phenotype compared with loss-of-function* variants, which* | pathogenic variants* in the gene OPA3 have presented with* | congenital cataracts, hearing loss* and neuropathy, with a* | previously reported cases of OPA3, except for a notable | lack of optic atrophy. The analysis of all known

关键词： congenital cataracts | mitochondrial | neuropathy | OPA3 | optic atrophy | sensorineural hearing loss

10. Gonadal Mosaicism for an ASH1L Intragenic Deletion Makes a Bridge Between MRD52 and 1q22 Microdeletion NSTL国家科技图书文献中心

Di Muro, Ester | Petracca, Antonio ... - 《American journal of medical genetics,Part A》 - 2025,197A(4) - e63960～e63960 - 共5页

摘要： human brain. De novo loss-of-function* variants in* | noncarrier suggesting gonadal/gonosomal mosaicism in one of | smallest region of overlap of the 1q22 microdeletion to | disorder. We also reported the first example of gonadal | fact that should generate the suspicion of recurrence

摘要： nonsense, and one splice variant. Nine of these variants | variants are a cause of CDH+ in females with Hardikar | required for the assembly of the kinase module of | formation of the RNA polymerase II-mediated preinitiation | variants, and X-linked dominant Hardikar syndrome and

关键词： CDH | CDH plus | congenital diaphragmatic hernia | Hardikar syndrome | intellectual disability | Lujan-Fryns syndrome | MED12 | mediator complex subunit 12 | Ohdo syndrome | Opitz-Kaveggia syndrome...

摘要： variants in DPH1, they were given a diagnosis of | of Fine-Lubinsky syndrome be screened for variants | the effects of intronic variants* that may affect* | . However, a research reanalysis of their exome sequencing | revealed significantly reduced expression of DPH1

关键词： DEDSSH1 | DPH1 | exome sequencing | Fine-Lubinsky syndrome | nonsense mediated mRNA decay | RNAseq | Fine–Lubinsky syndrome

摘要： and c.476 T > C) are loss-of-function* variants. Our* | variants of SLC25A20 (c.476 T > C and c.199-10 T > G) in | decreased stability of the SLC25A20 variants* c.476 T > C* | disorder of long-chain fatty acid oxidation caused by | variants in the SLC25A20 gene, leading to energy

关键词： CACTD | Compound heterozygous variants | c.199-10T> | G and c.476T> | C variants | Loss-of-function | Protein stability

摘要：ABSTRACT Heterozygous de novo loss of function | variants in the motor domain of KIF5C are associated with | Glu237Lys), of which four variants* have not been reported* | pathogenic KIF5C variants. Evaluation of the | neurodevelopmental phenotype of additional individuals with loss* of*

关键词： developmental delay | epilepsy | failure to thrive | intellectual disability | KIF5C

摘要： characterized as Loss-of-Function* variants either by* | -of-Function* variants. This gene should be* | novel variants* of SUPT5H revealed by next generation* | variants in genes coding for erythroid transcriptional | as a mimicker of beta thalassemia trait in two

关键词： Increased Hb A(2) | SUPT5H | mutation | beta thalassemia

摘要： biallelic loss* of function variants in BMP5 and a* | BMP5 variants* and a range of developmental anomalies* | The growth and development of the skeleton is | regulated by bone morphogenetic proteins of which several | variants in BMP5. Here, we report a patient with

关键词： BMP5 | cardiac malformation | rare disease | skeletal dysostosis | skeletal dysplasia

摘要： delayed myelination. Bi-allelic loss-of-function | , periventricular white matter loss, thin corpus callosum, and | variants in the Nucleoporin 188 (NUP188) (MIM:615587 | , presented with tetralogy of Fallot, bilateral congenital | history of a similarly affected ex-sibling. Whole exome

关键词： NUP188 | Hydrocephalus | Whole exome sequencing | Autosomal recessive | Novel mutation

摘要： maintenance of human nervous system. PNKP biallelic loss‐of | ‐function* variants have been associated with a broad* | ‐5del. To demonstrate the effect of both variants* on* | spectrum of neurological anomalies, ranging from | seizures (MCSZ), to later onset forms of ataxia

关键词： atresia | autosomal recessive microcephaly | MCSZ | PNKP | seizures

摘要： phenotype compared with loss-of-function* variants, which* | pathogenic variants* in the gene OPA3 have presented with* | congenital cataracts, hearing loss* and neuropathy, with a* | previously reported cases of OPA3, except for a notable | lack of optic atrophy. The analysis of all known

关键词： congenital cataracts | mitochondrial | neuropathy | OPA3 | optic atrophy | sensorineural hearing loss

摘要： human brain. De novo loss-of-function* variants in* | noncarrier suggesting gonadal/gonosomal mosaicism in one of | smallest region of overlap of the 1q22 microdeletion to | disorder. We also reported the first example of gonadal | fact that should generate the suspicion of recurrence

关键词： 1q22 microdeletion | ASH1L | neurodevelopmental disorders | SNP-array analysis | SNP‐array analysis

4008-161-200 800-990-8900

国家科技图书文献中心

摘要： nonsense, and one splice variant. Nine of these variants | variants are a cause of CDH+ in females with Hardikar | required for the assembly of the kinase module of | formation of the RNA polymerase II-mediated preinitiation | variants, and X-linked dominant Hardikar syndrome and

关键词： CDH | CDH plus | congenital diaphragmatic hernia | Hardikar syndrome | intellectual disability | Lujan-Fryns syndrome | MED12 | mediator complex subunit 12 | Ohdo syndrome | Opitz-Kaveggia syndrome...

摘要： variants in DPH1, they were given a diagnosis of | of Fine-Lubinsky syndrome be screened for variants | the effects of intronic variants that may affect | . However, a research reanalysis of their exome sequencing | revealed significantly reduced expression of DPH1

关键词： DEDSSH1 | DPH1 | exome sequencing | Fine-Lubinsky syndrome | nonsense mediated mRNA decay | RNAseq | Fine–Lubinsky syndrome

摘要： and c.476 T > C) are loss-of-function variants. Our | variants of SLC25A20 (c.476 T > C and c.199-10 T > G) in | decreased stability of the SLC25A20 variants c.476 T > C | disorder of long-chain fatty acid oxidation caused by | variants in the SLC25A20 gene, leading to energy

关键词： CACTD | Compound heterozygous variants | c.199-10T> | G and c.476T> | C variants | Loss-of-function | Protein stability

摘要：ABSTRACT Heterozygous de novo loss of function | variants in the motor domain of KIF5C are associated with | Glu237Lys), of which four variants have not been reported | pathogenic KIF5C variants. Evaluation of the | neurodevelopmental phenotype of additional individuals with loss of

关键词： developmental delay | epilepsy | failure to thrive | intellectual disability | KIF5C

摘要： characterized as Loss-of-Function variants either by | -of-Function variants. This gene should be | novel variants of SUPT5H revealed by next generation | variants in genes coding for erythroid transcriptional | as a mimicker of beta thalassemia trait in two

关键词： Increased Hb A(2) | SUPT5H | mutation | beta thalassemia

摘要： biallelic loss of function variants in BMP5 and a | BMP5 variants and a range of developmental anomalies | The growth and development of the skeleton is | regulated by bone morphogenetic proteins of which several | variants in BMP5. Here, we report a patient with

关键词： BMP5 | cardiac malformation | rare disease | skeletal dysostosis | skeletal dysplasia

摘要： delayed myelination. Bi-allelic loss-of-function | , periventricular white matter loss, thin corpus callosum, and | variants in the Nucleoporin 188 (NUP188) (MIM:615587 | , presented with tetralogy of Fallot, bilateral congenital | history of a similarly affected ex-sibling. Whole exome

关键词： NUP188 | Hydrocephalus | Whole exome sequencing | Autosomal recessive | Novel mutation

摘要： maintenance of human nervous system. PNKP biallelic loss‐of | ‐function variants have been associated with a broad | ‐5del. To demonstrate the effect of both variants on | spectrum of neurological anomalies, ranging from | seizures (MCSZ), to later onset forms of ataxia

关键词： atresia | autosomal recessive microcephaly | MCSZ | PNKP | seizures

摘要： phenotype compared with loss-of-function variants, which | pathogenic variants in the gene OPA3 have presented with | congenital cataracts, hearing loss and neuropathy, with a | previously reported cases of OPA3, except for a notable | lack of optic atrophy. The analysis of all known

关键词： congenital cataracts | mitochondrial | neuropathy | OPA3 | optic atrophy | sensorineural hearing loss

摘要： human brain. De novo loss-of-function variants in | noncarrier suggesting gonadal/gonosomal mosaicism in one of | smallest region of overlap of the 1q22 microdeletion to | disorder. We also reported the first example of gonadal | fact that should generate the suspicion of recurrence

关键词： 1q22 microdeletion | ASH1L | neurodevelopmental disorders | SNP-array analysis | SNP‐array analysis

4008-161-200 800-990-8900

国家科技图书文献中心

摘要： variants in DPH1, they were given a diagnosis of | of Fine-Lubinsky syndrome be screened for variants | the effects of intronic variants* that may affect* | . However, a research reanalysis of their exome sequencing | revealed significantly reduced expression of DPH1

摘要： and c.476 T > C) are loss-of-function* variants. Our* | variants of SLC25A20 (c.476 T > C and c.199-10 T > G) in | decreased stability of the SLC25A20 variants* c.476 T > C* | disorder of long-chain fatty acid oxidation caused by | variants in the SLC25A20 gene, leading to energy

摘要：ABSTRACT Heterozygous de novo loss of function | variants in the motor domain of KIF5C are associated with | Glu237Lys), of which four variants* have not been reported* | pathogenic KIF5C variants. Evaluation of the | neurodevelopmental phenotype of additional individuals with loss* of*

摘要： characterized as Loss-of-Function* variants either by* | -of-Function* variants. This gene should be* | novel variants* of SUPT5H revealed by next generation* | variants in genes coding for erythroid transcriptional | as a mimicker of beta thalassemia trait in two

摘要： biallelic loss* of function variants in BMP5 and a* | BMP5 variants* and a range of developmental anomalies* | The growth and development of the skeleton is | regulated by bone morphogenetic proteins of which several | variants in BMP5. Here, we report a patient with

摘要： maintenance of human nervous system. PNKP biallelic loss‐of | ‐function* variants have been associated with a broad* | ‐5del. To demonstrate the effect of both variants* on* | spectrum of neurological anomalies, ranging from | seizures (MCSZ), to later onset forms of ataxia

摘要： human brain. De novo loss-of-function* variants in* | noncarrier suggesting gonadal/gonosomal mosaicism in one of | smallest region of overlap of the 1q22 microdeletion to | disorder. We also reported the first example of gonadal | fact that should generate the suspicion of recurrence