Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 7 (of 7 Records)

Query Trace: Syndrome and PAH[original query]
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Journal of medical genetics 2013 Aug 50 (8): 500-6.
Kerstjens-Frederikse Wilhelmina S, Bongers Ernie M H F, Roofthooft Marcus T R, Leter Edward M, Douwes J Menno, Van Dijk Arie, Vonk-Noordegraaf Anton, Dijk-Bos Krista K, Hoefsloot Lies H, Hoendermis Elke S, Gille Johan J P, Sikkema-Raddatz Birgit, Hofstra Robert M W, Berger Rolf M
Behavioral and Emotional Problems in Early-Treated Brazilian Children and Adolescents with Phenylketonuria.
Medical science monitor : international medical journal of experimental and clinical research 2018 10 24 7759-7769.
Vieira Neto Eduardo, Maia Filho Heber de Souza, Monteiro Claudia Braga, Carvalho Lilian de Mattos, da Cruz Thuane Silva, de Barros Belisia Vasconcelos, Ribeiro Marcia Gonçalv
Identification of genetic factors underlying persistent pulmonary hypertension of newborns in a cohort of Chinese neonates.
Respiratory research 2019 Aug 20 (1): 174.
Liu Xu, Mei Mei, Chen Xiang, Lu Yulan, Dong Xinran, Hu Liyuan, Hu Xiaojing, Cheng Guoqiang, Cao Yun, Yang Lin, Zhou Wenh
The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension.
The Journal of pediatrics 2020 Jun .
Haarman Meindina G, Kerstjens-Frederikse Wilhelmina S, Vissia-Kazemier Theresia R, Breeman Karel T N, Timens Wim, Vos Yvonne J, Roofthooft Marc T R, Hillege Hans L, Berger Rolf M
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
American journal of respiratory and critical care medicine 2022 7 206 (12): 1522-1533.
Prapa Matina, Lago-Docampo Mauro, Swietlik Emilia M, Montani David, Eyries Mélanie, Humbert Marc, Welch Carrie L, Chung Wendy K, Berger Rolf M F, Bogaard Harm Jan, Danhaive Olivier, Escribano-Subías Pilar, Gall Henning, Girerd Barbara, Hernandez-Gonzalez Ignacio, Holden Simon, Hunt David, Jansen Samara M A, Kerstjens-Frederikse Wilhelmina, Kiely David G, Lapunzina Pablo, McDermott John, Moledina Shahin, Pepke-Zaba Joanna, Polwarth Gary J, Schotte Gwen, Tenorio-Castaño Jair, Thompson A A Roger, Wharton John, Wort Stephen J, Megy Karyn, Mapeta Rutendo, Treacy Carmen M, Martin Jennifer M, Li Wei, Swift Andrew J, Upton Paul D, Morrell Nicholas W, Gräf Stefan, Valverde Diana, , ,
Identification of potential susceptibility genes in patients with primary Sjögren's syndrome-associated pulmonary arterial hypertension through whole exome sequencing.
Arthritis research & therapy 2023 9 25 (1): 175.
Mucong Li, Yue Shi, Jiuliang Zhao, Qian Wang, Mengtao Li, Xiuli Zh
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Genes 2023 10 14 (10): .
Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy
TOP