Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1992 1
1994 2
1996 1
1999 1
2000 1
2001 1
2002 1
2004 1
2005 1
2007 2
2011 1
2015 1
2016 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.
Slavotinek AM, Biesecker LG. Slavotinek AM, et al. Am J Med Genet. 2000 Nov 27;95(3):208-15. Am J Med Genet. 2000. PMID: 11102925 Review.
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). We review reported cases of MKS and BBS presenting with HMC and PAP early in life to determine if there are clinical fe …
Hydrometrocolpos (HMC) and post-axial polydactyly (PAP) are common to both McKusick-Kaufman syndrome (MKS) and Bardet-B …
Ellis-van Creveld syndrome.
Baujat G, Le Merrer M. Baujat G, et al. Orphanet J Rare Dis. 2007 Jun 4;2:27. doi: 10.1186/1750-1172-2-27. Orphanet J Rare Dis. 2007. PMID: 17547743 Free PMC article. Review.
Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. ...
Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrom …
The retinal ciliopathies.
Adams NA, Awadein A, Toma HS. Adams NA, et al. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424. Ophthalmic Genet. 2007. PMID: 17896309 Review.
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, as well as retinal degenerations associated with Usher syndrome, primary ciliary dyskinesia, Senior-Loken syndrome, Joubert syndrome, Barde …
The retinal ciliopathies include retinitis pigmentosa, macular degeneration, cone-dystrophy, cone-rod dystrophy, Leber congenital amaurosis, …
McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature.
Pul N, Pul M, Gedik Y. Pul N, et al. Am J Med Genet. 1994 Feb 1;49(3):341-3. doi: 10.1002/ajmg.1320490320. Am J Med Genet. 1994. PMID: 8209897 Review.
A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula is presented. ...
A female infant with McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula …
Genetics of the female reproductive ducts.
Simpson JL. Simpson JL. Am J Med Genet. 1999 Dec 29;89(4):224-39. doi: 10.1002/(sici)1096-8628(19991229)89:4<224::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10727998 Review.
No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the McKusick-Kaufman syndrome (MKS) and the hand-foot-genital syndrome. ...
No information exists on the number and chromosomal location of responsible genes. Single mutant genes (Mendelian) are responsible for the …
Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis.
Behera M, Couchman G, Walmer D, Price TM. Behera M, et al. Obstet Gynecol Surv. 2005 Jul;60(7):453-61. doi: 10.1097/01.ogx.0000165265.01778.55. Obstet Gynecol Surv. 2005. PMID: 15995562 Review.
We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic somite dysplasia (MURCS), Roberts syndrome, Bardet-Biedl syndrome (BBS), McKusick-Kaufman syndrome (MKS), Wolf-Hirschhorn …
We also review rare syndromes associated with Mullerian anomalies, including Mullerian hypoplasia/aplasia-renal agenesis-cervicothoracic som …
The McKusick-Kaufman syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases.
Lurie IW, Wulfsberg EA. Lurie IW, et al. Genet Couns. 1994;5(3):275-81. Genet Couns. 1994. PMID: 7811428 Review.
The characteristic clinical picture of the McKusick-Kaufman syndrome was observed in a girl of Belorussian background. ...For this reason we feel that some sporadic cases reported as patients with unusual variants of the McKusick-Kaufman synd …
The characteristic clinical picture of the McKusick-Kaufman syndrome was observed in a girl of Belorussian background. …
The molecular genetics of Bardet-Biedl syndrome.
Sheffield VC, Nishimura D, Stone EM. Sheffield VC, et al. Curr Opin Genet Dev. 2001 Jun;11(3):317-21. doi: 10.1016/s0959-437x(00)00196-9. Curr Opin Genet Dev. 2001. PMID: 11377969 Review.
One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be s …
One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syn …
15 results