| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdaran. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics. 2023-09-05. PMID:37668766. |
our findings were in line with the previously described patients with tmem147 variants manifesting intellectual disability as a major clinical sign but also featured spasticity as a phenotypic expansion. |
2023-09-05 |
2023-09-07 |
Not clear |
| Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdaran. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics. 2023-09-05. PMID:37668766. |
biallelic variants in the transmembrane protein tmem147 have recently been linked to intellectual disability with dysmorphic facial features. |
2023-09-05 |
2023-09-07 |
Not clear |
| Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdaran. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics. 2023-09-05. PMID:37668766. |
a biallelic loss-of-function variant in tmem147 causes profound intellectual disability and spasticity. |
2023-09-05 |
2023-09-07 |
Not clear |
| Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdaran. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics. 2023-09-05. PMID:37668766. |
this study provides additional evidence for the pathogenicity of tmem147 mutations in intellectual disability and expands the phenotypic and variant spectrum linked to this gene. |
2023-09-05 |
2023-09-07 |
Not clear |
| Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdaran. A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. Neurogenetics. 2023-09-05. PMID:37668766. |
here, we report two patients born to a consanguineous family with a novel loss-of-function variant; (nm_001242597.2:c.193-197del) in tmem147 causing intellectual disability and spasticity. |
2023-09-05 |
2023-09-07 |
Not clear |
| Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S Zaki, Andrea Ciolfi, Julien Paccaud, Fran\\xc3\\xa7ois Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denomm\\xc3\\xa9-Pichon, Benjamin Cogn\\xc3\\xa9, Eva Trochu, Virginie Vignard, Fatima El It, Lance H Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis Duffourd, Ange-Line Bruel, Adam Jackson, Siddharth Banka, Meriel McEntagart, Anand Saggar, Joseph G Gleeson, David Sievert, Hyunwoo Bae, Beom Hee Lee, Kisang Kwon, Go Hun Seo, Hane Lee, Anjum Saeed, Nadeem Anjum, Huma Cheema, Salem Alawbathani, Imran Khan, Jorge Pinto-Basto, Joyce Teoh, Jasmine Wong, Umar Bin Mohamad Sahari, Henry Houlden, Kristina Zhelcheska, Melanie Pannetier, Mona A Awad, Marion Lesieur-Sebellin, Giulia Barcia, Jeanne Amiel, Julian Delanne, Christophe Philippe, Laurence Faivre, Sylvie Odent, Aida Bertoli-Avella, Christel Thauvin, Bekim Sadikovic, Bruno Reversade, Reza Maroofian, J\\xc3\\xa9r\\xc3\\xb4me Govin, Marco Tartaglia, Antonio Vitobell. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Hu\\xc3\\xabt anomaly. American journal of human genetics. 2022-08-31. PMID:36044892. |
our findings provide clinical, genetic, and functional evidence that bi-allelic loss-of-function variants in tmem147 cause syndromic intellectual disability due to er-translocon and nuclear organization dysfunction. |
2022-08-31 |
2023-08-14 |
Not clear |
| Quentin Thomas, Marialetizia Motta, Thierry Gautier, Maha S Zaki, Andrea Ciolfi, Julien Paccaud, Fran\\xc3\\xa7ois Girodon, Odile Boespflug-Tanguy, Thomas Besnard, Jennifer Kerkhof, Haley McConkey, Aymeric Masson, Anne-Sophie Denomm\\xc3\\xa9-Pichon, Benjamin Cogn\\xc3\\xa9, Eva Trochu, Virginie Vignard, Fatima El It, Lance H Rodan, Mohammad Ayman Alkhateeb, Rami Abou Jamra, Laurence Duplomb, Emilie Tisserant, Yannis Duffourd, Ange-Line Bruel, Adam Jackson, Siddharth Banka, Meriel McEntagart, Anand Saggar, Joseph G Gleeson, David Sievert, Hyunwoo Bae, Beom Hee Lee, Kisang Kwon, Go Hun Seo, Hane Lee, Anjum Saeed, Nadeem Anjum, Huma Cheema, Salem Alawbathani, Imran Khan, Jorge Pinto-Basto, Joyce Teoh, Jasmine Wong, Umar Bin Mohamad Sahari, Henry Houlden, Kristina Zhelcheska, Melanie Pannetier, Mona A Awad, Marion Lesieur-Sebellin, Giulia Barcia, Jeanne Amiel, Julian Delanne, Christophe Philippe, Laurence Faivre, Sylvie Odent, Aida Bertoli-Avella, Christel Thauvin, Bekim Sadikovic, Bruno Reversade, Reza Maroofian, J\\xc3\\xa9r\\xc3\\xb4me Govin, Marco Tartaglia, Antonio Vitobell. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Hu\\xc3\\xabt anomaly. American journal of human genetics. 2022-08-31. PMID:36044892. |
bi-allelic loss-of-function variants in tmem147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-pelger-hu\xc3\xabt anomaly. |
2022-08-31 |
2023-08-14 |
Not clear |