H M Saal
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Explore the profile of H M Saal including associated specialties, affiliations and a list of published articles.
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38
Citations
349
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Recent Articles
1.
Hopkin R, Schorry E, Bofinger M, Saal H
J Pediatr
. 2000 Aug;
137(2):247-9.
PMID: 10931419
Ten of 12 patients diagnosed with deletion 22q11.2 in infancy required a total of 26 hospitalizations during their first year of life. After heart disease, feeding and respiratory problems were...
2.
Petrij F, Dauwerse H, Blough R, Giles R, van der Smagt J, Wallerstein R, et al.
J Med Genet
. 2000 Mar;
37(3):168-76.
PMID: 10699051
Rubinstein-Taybi syndrome (RTS) is a malformation syndrome characterised by facial abnormalities, broad thumbs, broad big toes, and mental retardation. In a subset of RTS patients, microdeletions, translocations, and inversions involving...
3.
Blough R, Petrij F, Dauwerse J, WEISS L, Saal H, Rubinstein J
Am J Med Genet
. 1999 Dec;
90(1):29-34.
PMID: 10602114
Most reported microdeletions of the CREB-binding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the...
4.
Lees M, Winter R, Malcolm S, Saal H, Chitty L
J Med Genet
. 1999 Dec;
36(12):888-92.
PMID: 10593995
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal...
5.
Johnson N, Saal H, Lovell A, Schorry E
J Pediatr
. 1999 Jun;
134(6):767-72.
PMID: 10356149
Objective: To describe social and emotional problems in children and adolescents with neurofibromatosis type 1 (NF1) and propose interventions. Our hypothesis is that children with NF1 will have significantly more...
6.
Hopkin R, Cotton R, LANGER L, Saal H
Am J Med Genet
. 1998 Dec;
80(3):241-6.
PMID: 9843046
Laryngotracheal stenosis is rare in adults, especially in the absence of a malignancy. It is most commonly caused by fibrosis following endotracheal intubation or tracheal trauma. Other conditions causing progressive...
7.
Schorry E, Dietrich K, Saal H, Blough R, Dey S, Chernausek S
Am J Med Genet
. 1998 May;
77(4):257-60.
PMID: 9600731
We present two sibs with partial trisomy 1 (q31.1-q32.1) due to a familial insertion. Patient 1 is a girl who presented at age 9 months with minor anomalies, short stature,...
8.
Schorry E, Crawford A, Egelhoff J, Lovell A, Saal H
Am J Med Genet
. 1997 Oct;
74(5):533-7.
PMID: 9342207
Thoracic tumors have been infrequently reported as a complication of neurofibromatosis-1 (NF1). To determine the prevalence and clinical features of thoracic tumors seen in children with NF1, we reviewed medical...
9.
Hopkin R, Schorry E, Bofinger M, Milatovich A, Stern H, Jayne C, et al.
Am J Med Genet
. 1997 Jun;
70(4):377-86.
PMID: 9182778
Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies....
10.
Schorry E, Lovell A, Milatovich A, Saal H
Am J Med Genet
. 1996 Dec;
66(4):423-5.
PMID: 8989459
There is a well-known association between neurofibromatosis-1 (NF1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression...