These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

136 related articles for article (PubMed ID: 2750787)

  • 1. Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation.
    Tsukahara M; Azuno Y; Kajii T
    Am J Med Genet; 1989 May; 33(1):7-9. PubMed ID: 2750787
    [No Abstract]   [Full Text] [Related]  

  • 2. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.
    Tonoki H; Kishino T; Niikawa N
    Am J Med Genet; 1990 May; 36(1):89-93. PubMed ID: 2333912
    [TBL] [Abstract][Full Text] [Related]  

  • 3. New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.
    Gurrieri F; Sammito V; Bellussi A; Neri G
    Am J Med Genet; 1992 Oct; 44(3):315-20. PubMed ID: 1488978
    [No Abstract]   [Full Text] [Related]  

  • 4. A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.
    Utine GE; Breckpot J; Thienpont B; Alanay Y; Aksoy C; Boduroğlu K; Devriendt K
    Am J Med Genet A; 2010 Apr; 152A(4):947-9. PubMed ID: 20358606
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Short rib-polydactyly syndrome, Majewski type.
    Chen H; Yang SS; Gonzalez E; Fowler M; Al Saadi A
    Am J Med Genet; 1980; 7(2):215-22. PubMed ID: 7468649
    [TBL] [Abstract][Full Text] [Related]  

  • 6. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
    Mumtaz S; Yıldız E; Jabeen S; Khan A; Tolun A; Malik S
    Am J Med Genet A; 2015 Dec; 167A(12):3148-52. PubMed ID: 26333564
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Seckel's syndrome: a case report.
    Di Blasi S; Belvedere M; Pintacuda S; Di Blasi U; Ferotti N; Galante S; Galante D
    J Med; 1993; 24(1):75-96. PubMed ID: 8501405
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Langer-Giedion syndrome.
    Hall BD; Langer LO; Giedion A; Smith DW; Cohen MM; Beals RK; Brandner M
    Birth Defects Orig Artic Ser; 1974; 10(12):147-64. PubMed ID: 4549298
    [No Abstract]   [Full Text] [Related]  

  • 9. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology.
    Stinson JL; Brault JA; Delk PR; Graham BH; Karmazyn B; Hall B; Weaver DD
    Am J Med Genet A; 2020 Jul; 182(7):1562-1571. PubMed ID: 32426895
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Treatment of hip subluxation in Dyggve-Melchior-Clausen syndrome.
    Hosny GA; Fabry G
    J Pediatr Orthop B; 1998 Jan; 7(1):32-4. PubMed ID: 9481654
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.
    Toledo SP; Saldanha PH; Lamego C; Mourão PA; Dietrich CP; Mattar E
    Am J Med Genet; 1979; 4(3):255-61. PubMed ID: 117710
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The third patient with Tsukahara-Azuno-Kaiji syndrome with type A1 brachydactyly, dwarfism, microcephaly, scoliosis, intellectual disability, ptosis, and hearing loss.
    Murata A
    Radiol Case Rep; 2022 Jan; 17(1):181-184. PubMed ID: 34815823
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Parental consanguinity in two sibs with omodysplasia.
    Baxová A; Maroteaux P; Barosová J; Netriová I
    Am J Med Genet; 1994 Feb; 49(3):263-5. PubMed ID: 8209882
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.
    Rimoin DL; McAlister WH
    Birth Defects Orig Artic Ser; 1971 Mar; 07(4):116-22. PubMed ID: 5173335
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Unusual multiple epiphyseal dysplasias.
    Lie SO; Siggers DC; Dorst JP; Kopits SE
    Birth Defects Orig Artic Ser; 1974; 10(12):165-85. PubMed ID: 4461058
    [No Abstract]   [Full Text] [Related]  

  • 16. Pre- and postnatal growth retardation--severe mental retardation--acral limb deficiencies with poorly keratinized nails. Another example of a distinct syndrome of inherited intrauterine dwarfism?
    Cartwright J; Nelson M; Fryns JP
    Genet Couns; 1991; 2(3):147-50. PubMed ID: 1801850
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.
    Thauvin-Robinet C; El Ghouzzi V; Chemaitilly W; Dagoneau N; Boute O; Viot G; Mégarbané A; Sefiani A; Munnich A; Le Merrer M; Cormier-Daire V
    J Med Genet; 2002 Oct; 39(10):714-7. PubMed ID: 12362026
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A new heart defect-brachydactyly syndrome].
    Göblyös P; Czeizel E
    Orv Hetil; 1989 Oct; 130(40):2151-3. PubMed ID: 2616157
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Neonatal hyperthyroidism with accelerated skeletal maturation, craniosynostosis, and brachydactyly.
    Riggs W; Wilroy RS; Etteldorf JN
    Radiology; 1972 Dec; 105(3):621-5. PubMed ID: 4642468
    [No Abstract]   [Full Text] [Related]  

  • 20. Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities.
    Woods CG; Crouchman M; Huson SM
    J Med Genet; 1992 Jul; 29(7):500-2. PubMed ID: 1640433
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.