167 related articles for article (PubMed ID: 31903955)
61. Neu-Laxova syndrome, grossly appearing normal on 20 weeks ultrasonographic scan, that manifested late in pregnancy: a case report.
Kahyaoglu S; Turgay I; Ertas IE; Ceylaner S; Danisman N
Arch Gynecol Obstet; 2007 Oct; 276(4):367-70. PubMed ID: 17406877
[TBL] [Abstract][Full Text] [Related]
62. A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Preiksaitiene E; Caro A; Benušienė E; Oltra S; Orellana C; Morkūnienė A; Roselló MP; Kasnauskiene J; Monfort S; Kučinskas V; Mayo S; Martinez F
Am J Med Genet A; 2015 Jun; 167(6):1342-8. PubMed ID: 25900314
[TBL] [Abstract][Full Text] [Related]
63. Rare manifestations of Neu-Laxova syndrome.
Badakali M; Badakali A; Dombale V
Fetal Pediatr Pathol; 2012 Feb; 31(1):1-5. PubMed ID: 22233503
[TBL] [Abstract][Full Text] [Related]
64. Discovery and optimization of piperazine-1-thiourea-based human phosphoglycerate dehydrogenase inhibitors.
Rohde JM; Brimacombe KR; Liu L; Pacold ME; Yasgar A; Cheff DM; Lee TD; Rai G; Baljinnyam B; Li Z; Simeonov A; Hall MD; Shen M; Sabatini DM; Boxer MB
Bioorg Med Chem; 2018 May; 26(8):1727-1739. PubMed ID: 29555419
[TBL] [Abstract][Full Text] [Related]
65. Overexpression of
Huang SP; Chan YC; Huang SY; Lin YF
Cancers (Basel); 2019 Dec; 12(1):. PubMed ID: 31861486
[TBL] [Abstract][Full Text] [Related]
66. Menin regulates the serine biosynthetic pathway in Ewing sarcoma.
Svoboda LK; Teh SSK; Sud S; Kerk S; Zebolsky A; Treichel S; Thomas D; Halbrook CJ; Lee HJ; Kremer D; Zhang L; Klossowski S; Bankhead AR; Magnuson B; Ljungman M; Cierpicki T; Grembecka J; Lyssiotis CA; Lawlor ER
J Pathol; 2018 Jul; 245(3):324-336. PubMed ID: 29672864
[TBL] [Abstract][Full Text] [Related]
67. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.
Kariminejad A; Ajeawung NF; Bozorgmehr B; Dionne-Laporte A; Molidperee S; Najafi K; Gibbs RA; Lee BH; Hennekam RC; Campeau PM
J Hum Genet; 2017 Apr; 62(4):465-471. PubMed ID: 28003643
[TBL] [Abstract][Full Text] [Related]
68. A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?
Ozcan D; Derbent M; Seçkin D; Bikmaz YE; Ağildere M; De Sandre-Giovannoli A; Lévy N; Gürakan B
Ann Dermatol; 2013 Nov; 25(4):483-8. PubMed ID: 24371398
[TBL] [Abstract][Full Text] [Related]
69. The Neu-Laxova syndrome.
Seemanová E; Rudolf R
Am J Med Genet; 1985 Jan; 20(1):13-5. PubMed ID: 3970065
[No Abstract] [Full Text] [Related]
70. [Genetic and phenotypic analysis of a patient with phosphogylcerate dehydrogenase deficiency].
Tao Z; Lu F
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Feb; 38(2):170-173. PubMed ID: 33565074
[TBL] [Abstract][Full Text] [Related]
71. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
Majoor-Krakauer DF; Wladimiroff JW; Stewart PA; van de Harten JJ; Niermeijer MF
Am J Med Genet; 1987 May; 27(1):183-8. PubMed ID: 3300331
[TBL] [Abstract][Full Text] [Related]
72. Prenatal diagnosis of Neu-Laxova syndrome: a case report.
Aslan H; Gul A; Polat I; Mutaf C; Agar M; Ceylan Y
BMC Pregnancy Childbirth; 2002; 2(1):1. PubMed ID: 11895570
[TBL] [Abstract][Full Text] [Related]
73. CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
Mi XB; Luo MX; Guo LL; Zhang TD; Qiu XW
Pediatr Dermatol; 2015; 32(6):e277-82. PubMed ID: 26459993
[TBL] [Abstract][Full Text] [Related]
74. Lethal arthrogryposis with icthyosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus.
Thakur S; Pal L; Phadke SR
Clin Dysmorphol; 2004 Apr; 13(2):117-119. PubMed ID: 15057131
[TBL] [Abstract][Full Text] [Related]
75. Mutational spectrum of NSDHL in CHILD syndrome.
Bornholdt D; König A; Happle R; Leveleki L; Bittar M; Danarti R; Vahlquist A; Tilgen W; Reinhold U; Poiares Baptista A; Grosshans E; Vabres P; Niiyama S; Sasaoka K; Tanaka T; Meiss AL; Treadwell PA; Lambert D; Camacho F; Grzeschik KH
J Med Genet; 2005 Feb; 42(2):e17. PubMed ID: 15689440
[No Abstract] [Full Text] [Related]
76. Natural course of neonatal progeroid syndrome.
Hou JW
Pediatr Neonatol; 2009 Jun; 50(3):102-9. PubMed ID: 19579756
[TBL] [Abstract][Full Text] [Related]
77. Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2.
Isobe A; Maeda N; Fujita H; Banno S; Kageyama T; Hatabu N; Sato R; Suzuki E; Miharu M; Komiyama O; Nakashima M; Matsunaga T; Nishimura G; Yamazawa K
Am J Med Genet A; 2021 Mar; 185(3):952-954. PubMed ID: 33369046
[No Abstract] [Full Text] [Related]
78. [Cardiac symptoms in 2 patients with Seckel syndrome].
Rappen U; von Brenndorff AI
Monatsschr Kinderheilkd; 1993 Jul; 141(7):584-6. PubMed ID: 8413337
[TBL] [Abstract][Full Text] [Related]
79. Changes in expression of serine biosynthesis and integrated stress response genes during myogenic differentiation of C2C12 cells.
Brearley MC; Li C; Daniel ZCTR; Loughna PT; Parr T; Brameld JM
Biochem Biophys Rep; 2019 Dec; 20():100694. PubMed ID: 31681859
[TBL] [Abstract][Full Text] [Related]
80. Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
Yilmaz R; Szakszon K; Altmann A; Altunoglu U; Senturk L; McGuire M; Calabrese O; Madan-Khetarpal S; Basel-Vanagaite L; Borck G
Am J Med Genet A; 2018 Jan; 176(1):187-193. PubMed ID: 29160006
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]