Lacassie Y - Search Results

1

The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement.

Temtamy SA, Miller JD, Dorst JP, Hussels-Maumenee I, Salinas C, Lacassie Y, Kenyon KR. Temtamy SA, et al. Among authors: lacassie y. Birth Defects Orig Artic Ser. 1975;11(6):133-52. Birth Defects Orig Artic Ser. 1975. PMID: 1201338 No abstract available.

2

Two "new" autosomal recessive mental retardation syndromes observed among the Amish.

Gale AN, Lacassie Y, Rogers JG, Levin LS, McKusick VA. Gale AN, et al. Among authors: lacassie y. Birth Defects Orig Artic Ser. 1977;13(3B):127-38. Birth Defects Orig Artic Ser. 1977. PMID: 142529 No abstract available.

3

Proceedings: Pseudo-rubinstein syndrome: an autosomal dominant condition.

Lacassie Y. Lacassie Y. Birth Defects Orig Artic Ser. 1976;12(5):330-1. Birth Defects Orig Artic Ser. 1976. PMID: 953239 No abstract available.

4

Dermatoglyphics in the Gardner syndrome.

Krush AJ, Lacassie Y, Bolling DR, Luk WJ, Borgaonkar DS. Krush AJ, et al. Among authors: lacassie y. Birth Defects Orig Artic Ser. 1979;15(6):641-8. Birth Defects Orig Artic Ser. 1979. PMID: 298798 No abstract available.

5

Usefulness of chromosome catalog in delineating new syndromes.

Borgaonkar DS, Lacassie YE, Stoll C. Borgaonkar DS, et al. Among authors: lacassie ye. Birth Defects Orig Artic Ser. 1976;12(5):87-95. Birth Defects Orig Artic Ser. 1976. PMID: 953248 No abstract available.

6

[Dermatoglyphics in mongolism. A diagnostic, prognostic and genetic counseling aid].

Lacassie Y. Lacassie Y. Rev Med Chil. 1971 Feb;99(2):163-70. Rev Med Chil. 1971. PMID: 4253626 Spanish. No abstract available.

7

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: lacassie y. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.

8

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Among authors: lacassie y. Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. Sci Rep. 2023. PMID: 37563198 Free PMC article.

9

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.

Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Among authors: lacassie y. Res Sq [Preprint]. 2023 Mar 27:rs.3.rs-2572736. doi: 10.21203/rs.3.rs-2572736/v1. Res Sq. 2023. PMID: 37034680 Free PMC article. Updated. Preprint.

10

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Lin SJ, Vona B, Porter HM, Izadi M, Huang K, Lacassie Y, Rosenfeld JA, Khan S, Petree C, Ali TA, Muhammad N, Khan SA, Muhammad N, Liu P, Haymon ML, Rüschendorf F, Kong IK, Schnapp L, Shur N, Chorich L, Layman L, Haaf T, Pourkarimi E, Kim HG, Varshney GK. Lin SJ, et al. Among authors: lacassie y. Hum Mutat. 2022 Oct;43(10):1472-1489. doi: 10.1002/humu.24435. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35815345

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