Similar articles for PMID: 10594883

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1

The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

Walter-Nicolet E, Coëslier A, Joriot S, Kacet N, Moerman A, Manouvrier-Hanu S. Walter-Nicolet E, et al. Am J Med Genet. 1999 Dec 22;87(5):430-3. doi: 10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10594883 Review.

2

Gordon syndrome caused by a CUL3 mutation in a patient with short stature in Korea: a case report.

Park JH, Kim JH, Ahn YH, Kang HG, Ha IS, Cheong HI. Park JH, et al. J Pediatr Endocrinol Metab. 2021 Sep 6;35(2):253-257. doi: 10.1515/jpem-2021-0361. Print 2022 Feb 23. J Pediatr Endocrinol Metab. 2021. PMID: 34480842

3

Craniofacial Features in Richieri-Costa-Pereira Syndrome.

Pardo MP, Santos GLD, Carvalho IMM, Tjioe KC. Pardo MP, et al. Cleft Palate Craniofac J. 2021 Nov;58(11):1370-1375. doi: 10.1177/1055665620987749. Epub 2021 Jan 28. Cleft Palate Craniofac J. 2021. PMID: 33504197

4

Lady Pereira Gray: an appreciation.

Evans PH, Choules J. Evans PH, et al. Br J Gen Pract. 2020 Dec 28;71(702):30. doi: 10.3399/bjgp21X714509. Print 2021 Jan. Br J Gen Pract. 2020. PMID: 33372091 Free PMC article. No abstract available.

5

Crisponi/Cold Induced Sweating Syndrome Type 1 With a Private Cytokine Receptor Like Factor 1 (CRLF1) Mutation in an Indian Family.

Sahi PK, Mandal A, Persico I, Seth A, Crisponi L. Sahi PK, et al. Indian Pediatr. 2020 Nov 15;57(11):1075-1076. Indian Pediatr. 2020. PMID: 33231180 Free article. No abstract available.

6

Novel KLHL3 Variant in an Infant With Gordon Syndrome.

Doan D, Chu C, Yancovich S, El-Dahr S, Baliga R. Doan D, et al. Clin Pediatr (Phila). 2020 Oct;59(11):1011-1013. doi: 10.1177/0009922820920938. Epub 2020 May 28. Clin Pediatr (Phila). 2020. PMID: 32462939 No abstract available.

7

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Schierz IAM, Serra G, Antona V, Persico I, Corsello G, Piro E. Schierz IAM, et al. Clin Dysmorphol. 2020 Jul;29(3):141-143. doi: 10.1097/MCD.0000000000000325. Clin Dysmorphol. 2020. PMID: 32433043 No abstract available.

8

Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).

Pinto RO, Peixoto AP, Pinto ADS, Richieri-Costa A, Raveli DB, Tonello C, Dalben GDS. Pinto RO, et al. J Craniofac Surg. 2020 Jun;31(4):e356-e359. doi: 10.1097/SCS.0000000000006338. J Craniofac Surg. 2020. PMID: 32217860

9

Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report.

Matos AG, Gurgel VP, Yugar PJ, Yugar AS. Matos AG, et al. Arq Bras Oftalmol. 2018 Sep-Oct;81(5):440-442. doi: 10.5935/0004-2749.20180085. Arq Bras Oftalmol. 2018. PMID: 30208149 Free article.

10

Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development.

Hsia GSP, Musso CM, Alvizi L, Brito LA, Kobayashi GS, Pavanello RCM, Zatz M, Gardham A, Wakeling E, Zechi-Ceide RM, Bertola D, Passos-Bueno MR. Hsia GSP, et al. Front Genet. 2018 Apr 25;9:149. doi: 10.3389/fgene.2018.00149. eCollection 2018. Front Genet. 2018. PMID: 29922329 Free PMC article.

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