153 related articles for article (PubMed ID: 34346154)
1. Expanding the KIF4A-associated phenotype.
Kalantari S; Carlston C; Alsaleh N; Abdel-Salam GMH; Alkuraya F; Kato M; Matsumoto N; Miyatake S; Yamamoto T; Fares-Taie L; Rozet JM; Chassaing N; Vincent-Delorme C; Kang-Bellin A; McWalter K; Bupp C; Palen E; Wagner MD; Niceta M; Cesario C; Milone R; Kaplan J; Wadman E; Dobyns WB; Filges I
Am J Med Genet A; 2021 Dec; 185(12):3728-3739. PubMed ID: 34346154
[TBL] [Abstract][Full Text] [Related]
2. Inherited intragenic PBX1 deletion: Expanding the phenotype.
Fitzgerald KK; Powell-Hamilton N; Shillingford AJ; Robinson B; Gripp KW
Am J Med Genet A; 2021 Jan; 185(1):234-237. PubMed ID: 33098248
[TBL] [Abstract][Full Text] [Related]
3. 'Kinesinopathies': emerging role of the kinesin family member genes in birth defects.
Kalantari S; Filges I
J Med Genet; 2020 Dec; 57(12):797-807. PubMed ID: 32430361
[TBL] [Abstract][Full Text] [Related]
4. The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K; Lazar HP; Kurolap A; Martinez AF; Paperna T; Cohen L; Smeland MF; Whalen S; Heide S; Keren B; Terhal P; Irving M; Takaku M; Roberts JD; Petrovich RM; Schrier Vergano SA; Kenney A; Hove H; DeChene E; Quinonez SC; Colin E; Ziegler A; Rumple M; Jain M; Monteil D; Roeder ER; Nugent K; van Haeringen A; Gambello M; Santani A; Medne L; Krock B; Skraban CM; Zackai EH; Dubbs HA; Smol T; Ghoumid J; Parker MJ; Wright M; Turnpenny P; Clayton-Smith J; Metcalfe K; Kurumizaka H; Gelb BD; Baris Feldman H; Campeau PM; Muenke M; Wade PA; Lachlan K
Genet Med; 2020 Feb; 22(2):389-397. PubMed ID: 31388190
[TBL] [Abstract][Full Text] [Related]
5. Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
Willemsen MH; Ba W; Wissink-Lindhout WM; de Brouwer AP; Haas SA; Bienek M; Hu H; Vissers LE; van Bokhoven H; Kalscheuer V; Nadif Kasri N; Kleefstra T
J Med Genet; 2014 Jul; 51(7):487-94. PubMed ID: 24812067
[TBL] [Abstract][Full Text] [Related]
6. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L; Lemmon M; Beck N; Johnson M; Mu W; Murdock D; Bodurtha J; Hoover-Fong J; Cohn R; Bosemani T; Barañano K; Hamosh A
Am J Med Genet A; 2016 Jan; 170A(1):77-86. PubMed ID: 26394714
[TBL] [Abstract][Full Text] [Related]
7. [Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract].
Bodria M; Sanna-Cherchi S
G Ital Nefrol; 2015; 32 Suppl 64():. PubMed ID: 26479062
[TBL] [Abstract][Full Text] [Related]
8. Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Makrythanasis P; Maroofian R; Stray-Pedersen A; Musaev D; Zaki MS; Mahmoud IG; Selim L; Elbadawy A; Jhangiani SN; Coban Akdemir ZH; Gambin T; Sorte HS; Heiberg A; McEvoy-Venneri J; James KN; Stanley V; Belandres D; Guipponi M; Santoni FA; Ahangari N; Tara F; Doosti M; Iwaszkiewicz J; Zoete V; Backe PH; Hamamy H; Gleeson JG; Lupski JR; Karimiani EG; Antonarakis SE
Eur J Hum Genet; 2018 Mar; 26(3):330-339. PubMed ID: 29343805
[TBL] [Abstract][Full Text] [Related]
9. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
[TBL] [Abstract][Full Text] [Related]
10. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM; Lu JT; Dawson BC; Fokkema IF; Robertson SP; Gibbs RA; Lee BH
Hum Mutat; 2012 Nov; 33(11):1520-5. PubMed ID: 22715153
[TBL] [Abstract][Full Text] [Related]
11. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
[TBL] [Abstract][Full Text] [Related]
12. Interleukin-10-1082A/G polymorphism is associated with renal parenchymal damage in congenital anomalies of the kidney and urinary tract.
Miteva LD; Kostadinova ES; Stanilova SA
Nephrology (Carlton); 2019 Feb; 24(2):213-220. PubMed ID: 29380920
[TBL] [Abstract][Full Text] [Related]
13. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F; McWalter K; Schmidt L; Decker A; Picker JD; Lincoln S; Sweetser DA; Briere LC; Harini C; ; Marsh E; Medne L; Wang RY; Leydiker K; Mower A; Visser G; Cuppen I; van Gassen KL; van der Smagt J; Yousaf A; Tennison M; Shanmugham A; Butler E; Richard G; McKnight D
J Neurogenet; 2017; 31(1-2):30-36. PubMed ID: 28460589
[TBL] [Abstract][Full Text] [Related]
14. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation.
Gumus E
Eur J Med Genet; 2020 Jan; 63(1):103637. PubMed ID: 30858058
[TBL] [Abstract][Full Text] [Related]
15. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Stolz JR; Foote KM; Veenstra-Knol HE; Pfundt R; Ten Broeke SW; de Leeuw N; Roht L; Pajusalu S; Part R; Rebane I; Õunap K; Stark Z; Kirk EP; Lawson JA; Lunke S; Christodoulou J; Louie RJ; Rogers RC; Davis JM; Innes AM; Wei XC; Keren B; Mignot C; Lebel RR; Sperber SM; Sakonju A; Dosa N; Barge-Schaapveld DQCM; Peeters-Scholte CMPCD; Ruivenkamp CAL; van Bon BW; Kennedy J; Low KJ; Ellard S; Pang L; Junewick JJ; Mark PR; Carvill GL; Swanson GT
Am J Hum Genet; 2021 Sep; 108(9):1692-1709. PubMed ID: 34375587
[TBL] [Abstract][Full Text] [Related]
16. Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Ristoska-Bojkovska N
Pril (Makedon Akad Nauk Umet Odd Med Nauki); 2017 Mar; 38(1):59-62. PubMed ID: 28593883
[TBL] [Abstract][Full Text] [Related]
17. Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H; Hennies I; Getwan M; Christians A; Weiss AC; Brand F; Gjerstad AC; Christians A; Gucev Z; Geffers R; Seeman T; Kispert A; Tasic V; Bjerre A; Lienkamp SS; Haffner D; Weber RG
Eur J Hum Genet; 2020 Dec; 28(12):1681-1693. PubMed ID: 32737436
[TBL] [Abstract][Full Text] [Related]
18. Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.
Holtz AM; Harrington AW; McNamara ER; Kielian A; Soul JS; Martinez-Ojeda M; Levy PT
Eur J Med Genet; 2020 Apr; 63(4):103802. PubMed ID: 31698102
[TBL] [Abstract][Full Text] [Related]
19. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A; Mignot C; Sigafoos A; Blackburn PR; Haseeb A; McWalter K; Ichikawa S; Nava C; Keren B; Charles P; Marey I; Tabet AC; Levy J; Perrin L; Hartmann A; Lesca G; Schluth-Bolard C; Monin P; Dupuis-Girod S; Guillen Sacoto MJ; Schnur RE; Zhu Z; Poisson A; El Chehadeh S; Alembik Y; Bruel AL; Lehalle D; Nambot S; Moutton S; Odent S; Jaillard S; Dubourg C; Hilhorst-Hofstee Y; Barbaro-Dieber T; Ortega L; Bhoj EJ; Masser-Frye D; Bird LM; Lindstrom K; Ramsey KM; Narayanan V; Fassi E; Willing M; Cole T; Salter CG; Akilapa R; Vandersteen A; Canham N; Rump P; Gerkes EH; Klein Wassink-Ruiter JS; Bijlsma E; Hoffer MJV; Vargas M; Wojcik A; Cherik F; Francannet C; Rosenfeld JA; Machol K; Scott DA; Bacino CA; Wang X; Clark GD; Bertoli M; Zwolinski S; Thomas RH; Akay E; Chang RC; Bressi R; Sanchez Russo R; Srour M; Russell L; Goyette AE; Dupuis L; Mendoza-Londono R; Karimov C; Joseph M; Nizon M; Cogné B; Kuechler A; Piton A; ; Klee EW; Lefebvre V; Clark KJ; Depienne C
Genet Med; 2020 Mar; 22(3):524-537. PubMed ID: 31578471
[TBL] [Abstract][Full Text] [Related]
20. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT).
Neirijnck Y; Reginensi A; Renkema KY; Massa F; Kozlov VM; Dhib H; Bongers EMHF; Feitz WF; van Eerde AM; Lefebvre V; Knoers NVAM; Tabatabaei M; Schulz H; McNeill H; Schaefer F; Wegner M; Sock E; Schedl A
Kidney Int; 2018 May; 93(5):1142-1153. PubMed ID: 29459093
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
