These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

107 related articles for article (PubMed ID: 35852485)

  • 21. Muenke syndrome: An international multicenter natural history study.
    Kruszka P; Addissie YA; Yarnell CM; Hadley DW; Guillen Sacoto MJ; Platte P; Paelecke Y; Collmann H; Snow N; Schweitzer T; Boyadjiev SA; Aravidis C; Hall SE; Mulliken JB; Roscioli T; Muenke M
    Am J Med Genet A; 2016 Apr; 170A(4):918-29. PubMed ID: 26740388
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway.
    Vogiatzi A; Baltsavia I; Dialynas E; Theodorou V; Zhou Y; Deligianni E; Iliopoulos I; Wilkie AOM; Twigg SRF; Mavrothalassitis G
    Mol Cell Biol; 2021 Jul; 41(8):e0014921. PubMed ID: 33972395
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
    Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T
    Genet Med; 2018 Sep; 20(9):1061-1068. PubMed ID: 29215649
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
    Bashir RA; Dixit A; Goedhart C; Parboosingh JS; Innes AM; ; Ferreira P; Hasan SU; Au PB
    Am J Med Genet A; 2017 Oct; 173(10):2596-2604. PubMed ID: 28696035
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
    Sentchordi-Montané L; Benito-Sanz S; Aza-Carmona M; Pereda A; Parrón-Pajares M; de la Torre C; Vasques GA; Funari MFA; Travessa AM; Dias P; Suarez-Ortega L; González-Buitrago J; Portillo-Najera NE; Llano-Rivas I; Martín-Frías M; Ramírez-Fernández J; Sánchez Del Pozo J; Garzón-Lorenzo L; Martos-Moreno GA; Alfaro-Iznaola C; Mulero-Collantes I; Ruiz-Ocaña P; Casano-Sancho P; Portela A; Ruiz-Pérez L; Del Pozo A; Vallespín E; Solís M; Lerario AM; González-Casado I; Ros-Pérez P; Pérez de Nanclares G; Jorge AAL; Heath KE
    J Clin Endocrinol Metab; 2020 Aug; 105(8):. PubMed ID: 32311039
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
    Janssen A; Hosen MJ; Jeannin P; Coucke PJ; De Paepe A; Vanakker OM
    Am J Med Genet A; 2013 Sep; 161A(9):2352-7. PubMed ID: 23918290
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
    Twigg SR; Vorgia E; McGowan SJ; Peraki I; Fenwick AL; Sharma VP; Allegra M; Zaragkoulias A; Sadighi Akha E; Knight SJ; Lord H; Lester T; Izatt L; Lampe AK; Mohammed SN; Stewart FJ; Verloes A; Wilson LC; Healy C; Sharpe PT; Hammond P; Hughes J; Taylor S; Johnson D; Wall SA; Mavrothalassitis G; Wilkie AO
    Nat Genet; 2013 Mar; 45(3):308-13. PubMed ID: 23354439
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
    Takenouchi T; Sakamoto Y; Sato H; Suzuki H; Uehara T; Ohsone Y; Kosaki K
    Am J Med Genet A; 2018 Dec; 176(12):2777-2780. PubMed ID: 30450715
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Craniosynostosis associated with intracranial calcification: a novel recessive syndrome.
    Longman C; Whiteford M; Koppel D; Donaldson M; Paterson W; Tolmie J
    Clin Dysmorphol; 2003 Oct; 12(4):215-20. PubMed ID: 14564206
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.
    Knapp KM; Fellows B; Aggarwal S; Dalal A; Bicknell LS
    Eur J Med Genet; 2021 Apr; 64(4):104182. PubMed ID: 33639314
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A novel variant of IHH in a Chinese family with brachydactyly type 1.
    Yang Q; Wang J; Tian X; Shen F; Lan J; Zhang Q; Fan X; Yi S; Li M; Shen Y
    BMC Med Genet; 2020 Mar; 21(1):60. PubMed ID: 32209048
    [TBL] [Abstract][Full Text] [Related]  

  • 32. FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
    Hibberd CE; Bowdin S; Arudchelvan Y; Forrest CR; Brakora KA; Marcucio RS; Gong SG
    Am J Med Genet A; 2016 Dec; 170(12):3215-3221. PubMed ID: 27481450
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
    Tolchin D; Yeager JP; Prasad P; Dorrani N; Russi AS; Martinez-Agosto JA; Haseeb A; Angelozzi M; Santen GWE; Ruivenkamp C; Mercimek-Andrews S; Depienne C; Kuechler A; Mikat B; Ludecke HJ; Bilan F; Le Guyader G; Gilbert-Dussardier B; Keren B; Heide S; Haye D; Van Esch H; Keldermans L; Ortiz D; Lancaster E; Krantz ID; Krock BL; Pechter KB; Arkader A; Medne L; DeChene ET; Calpena E; Melistaccio G; Wilkie AOM; Suri M; Foulds N; ; Begtrup A; Henderson LB; Forster C; Reed P; McDonald MT; McConkie-Rosell A; Thevenon J; Le Tanno P; Coutton C; Tsai ACH; Stewart S; Maver A; Gorazd R; Pichon O; Nizon M; Cogné B; Isidor B; Martin-Coignard D; Stoeva R; Lefebvre V; Le Caignec C
    Am J Hum Genet; 2020 Jun; 106(6):830-845. PubMed ID: 32442410
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.
    Walczak-Sztulpa J; Wawrocka A; Swiader-Lesniak A; Socha M; Jamsheer A; Drozdz D; Latos-Bielenska A; Zachwieja K
    Birth Defects Res; 2018 Mar; 110(4):376-381. PubMed ID: 29134781
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.
    Sasaki E; Byrne AT; Murray DJ; Reardon W
    Am J Med Genet A; 2020 Dec; 182(12):2994-2998. PubMed ID: 32975022
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
    Carlston CM; O'Donnell-Luria AH; Underhill HR; Cummings BB; Weisburd B; Minikel EV; Birnbaum DP; ; Tvrdik T; MacArthur DG; Mao R
    Hum Mutat; 2017 May; 38(5):517-523. PubMed ID: 28229513
    [TBL] [Abstract][Full Text] [Related]  

  • 37. New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
    Moko SB; Blandin de Chalain TM
    J Craniomaxillofac Surg; 2001 Feb; 29(1):22-4. PubMed ID: 11467490
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
    Agochukwu NB; Solomon BD; Muenke M
    Childs Nerv Syst; 2012 Sep; 28(9):1447-63. PubMed ID: 22872262
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
    Paumard-Hernández B; Berges-Soria J; Barroso E; Rivera-Pedroza CI; Pérez-Carrizosa V; Benito-Sanz S; López-Messa E; Santos F; García-Recuero II; Romance A; Ballesta-Martínez JM; López-González V; Campos-Barros Á; Cruz J; Guillén-Navarro E; Sánchez Del Pozo J; Lapunzina P; García-Miñaur S; Heath KE
    Eur J Hum Genet; 2015 Jul; 23(7):907-14. PubMed ID: 25271085
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
    Li X; Li Z; Chen P; Wang Y; Wang DW; Wang DW
    BMC Med Genet; 2020 Jul; 21(1):144. PubMed ID: 32631253
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.